Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel... |
ORPHA:318 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Megakaryocyte dysplasia, Pancytop... |
OMIM:619041 |
Immunodeficiency 16 |
|
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hyposegmentation of neutrophi... |
ORPHA:75564 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... |
OMIM:133180 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Myelodysplasia, Aplastic anemia, Pancytopenia |
OMIM:614675 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... |
OMIM:614470 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... |
OMIM:153600 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Granulocytic hypoplasia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma, Neoplasm |
ORPHA:2807 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity... |
OMIM:616871 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis, Neoplasm of the skin |
OMIM:142630 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Immunodeficiency 105 |
|
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired ... |
OMIM:619924 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Myelofibrosis, Abnormality of bo... |
ORPHA:86843 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia |
ORPHA:859 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Refractory Anemia |
|
Anemia of inadequate production, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypo... |
ORPHA:98826 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Anemia, Sideroblastic, 5 |
|
Refractory anemia with ringed sideroblasts, Hypochromic microcytic anemia, Neutropenia, Reduced h... |
OMIM:619523 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Megakaryocyte nucleus hypo... |
OMIM:153550 |
Immunodeficiency 76 |
|
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... |
OMIM:608971 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... |
ORPHA:465508 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... |
OMIM:619824 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... |
OMIM:618987 |
Fanconi-Like Syndrome |
|
Multiple cutaneous malignancies, Pancytopenia |
OMIM:227850 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Pancytopenia, Thrombocytopenia, Reticulated skin pigmentation |
OMIM:613987 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytope... |
OMIM:619151 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 24 |
|
Lymphopenia, Lymphoproliferative disorder, Reduced proportion of mucosal-associated invariant T c... |
OMIM:615897 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Leukopenia, Autoim... |
OMIM:613011 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow cell ... |
ORPHA:824 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Capillary hemangioma, Hydrocephalus |
ORPHA:2703 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
N Syndrome |
|
Cryptorchidism, Leukemia, Neoplasm |
OMIM:310465 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, H... |
ORPHA:98850 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Immunodeficiency 36 |
|
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... |
OMIM:616005 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Intestinal malrotation, Syndactyly, Toe synda... |
OMIM:601163 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo... |
ORPHA:98849 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr... |
OMIM:300835 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto... |
ORPHA:67044 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Aplastic anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Anemia |
OMIM:614742 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Ly... |
OMIM:308240 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Dysphagia, Hypogonadism |
OMIM:160900 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... |
ORPHA:277 |
Fanconi Anemia, Complementation Group D1 |
|
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Acute myelo... |
OMIM:605724 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Splenomegaly, Hemophagocytosis, Pancytopenia |
OMIM:300635 |
Turcot Syndrome With Polyposis |
|
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... |
ORPHA:99818 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Pancytopenia, ... |
OMIM:619767 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:507 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Abnormality of bone marrow cell morphology, Neutrope... |
ORPHA:101096 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hepatosplenomegal... |
OMIM:615122 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Limited mobility of proximal interphalangeal joint, Pig... |
OMIM:222300 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Acute lympho... |
ORPHA:486 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia |
OMIM:617872 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... |
OMIM:300853 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Non-Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141179 |
Aicardi Syndrome |
|
Malabsorption, Precocious puberty, Abnormality of retinal pigmentation, Hepatoblastoma, Hiatus he... |
ORPHA:50 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Hepatosplenomegaly, Hemophagocytosis, Pancytopenia |
OMIM:619858 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Failure to thrive secondary to recurrent infections, B lymphocytopenia, T lymp... |
OMIM:601457 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia |
OMIM:141000 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Squamous cell carcinoma of the tongue, Pancytopenia |
OMIM:613988 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Papilloma Of Choroid Plexus |
|
Papilloma, Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Hyperextensibilit... |
OMIM:305400 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty,... |
ORPHA:141333 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Talipes equinovarus, Hepatoblastoma, Teratoma, Mic... |
OMIM:269150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 64 |
|
Failure to thrive, B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive ... |
OMIM:618534 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Malignant neoplasm of the central nervous system |
ORPHA:99966 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice |
OMIM:129850 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Lig4 Syndrome |
|
Myelodysplasia, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... |
ORPHA:86839 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:173590 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Syndromic Diarrhea |
|
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Generalized hypopigmentation, Splenomegaly, C... |
ORPHA:84064 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Leukopenia, Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Schinzel-Giedion Syndrome |
|
Hepatoblastoma, Streak ovary, Short 1st metacarpal, Radioulnar synostosis, Sacrococcygeal teratom... |
ORPHA:798 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
Aicardi Syndrome |
|
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Dandy-Walker malformation, Choroid plexus c... |
OMIM:304050 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Rapidly Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141184 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Neutropenia, Reticulocytopenia |
OMIM:275350 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Polysplenia, Clinodactyly of the 5th finger, Talipes equinovarus, H... |
ORPHA:373 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets |
OMIM:137560 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
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Bone marrow hypocellularity, Aplastic anemia, Pancytopenia |
OMIM:616553 |
Severe Combined Immunodeficiency, X-Linked |
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Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte... |
OMIM:300400 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Anemia |
OMIM:611283 |
Malaria |
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Anemia, Thrombocytopenia |
ORPHA:673 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Alpha-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Premature Ovarian Failure 8 |
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Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... |
ORPHA:66661 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... |
ORPHA:86893 |
Immunodeficiency 102 |
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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 |
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Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Dys... |
OMIM:157640 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Platelet Disorder, Undefined |
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Hematological neoplasm, Thrombocytopenia, Neuroblastoma, Impaired platelet aggregation |
OMIM:173420 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Griscelli Syndrome Type 2 |
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Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Nephrotic Syndrome, Type 7 |
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Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Congenital Atransferrinemia |
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Anemia |
ORPHA:1195 |
Bleeding Disorder, Platelet-Type, 19 |
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Anemia, Macrothrombocytopenia |
OMIM:616176 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Thanatophoric Dysplasia, Glasgow Variant |
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Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Ovarian Dysgenesis 10 |
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Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Immunodeficiency 68 |
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Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Fanconi Anemia, Complementation Group R |
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Hydrocephalus |
OMIM:617244 |
Familial Male-Limited Precocious Puberty |
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Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Fanconi Anemia, Complementation Group V |
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Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Thymoma |
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Neoplasm, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm... |
ORPHA:99867 |
Autoimmune Hemolytic Anemia, Warm Type |
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Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Hydrocephalus, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cu... |
ORPHA:2183 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
Premature Ovarian Failure 13 |
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Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Pontocerebellar Hypoplasia, Type 15 |
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Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Bangstad Syndrome |
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Pancytopenia |
OMIM:210740 |
Bleeding Disorder, Platelet-Type, 20 |
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Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
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Thrombocytopenia |
OMIM:613554 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta |
OMIM:182940 |
Bone Marrow Failure Syndrome 4 |
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Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Lig4 Syndrome |
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Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Cryptorchidism, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... |
ORPHA:572 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... |
ORPHA:432 |
1Q21.1 Microduplication Syndrome |
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Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Hypospadias, Cryptorchidism |
ORPHA:250994 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Immunodeficiency 46 |
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Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Gaucher Disease, Type I |
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Multiple myeloma, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver... |
ORPHA:217390 |
Dandy-Walker Syndrome |
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Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Congenital thrombocytopenia, Megakaryocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Frasier Syndrome |
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Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Forsythe-Wakeling Syndrome |
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Thrombocytopenia |
OMIM:613606 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Functioning Gonadotropic Adenoma |
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Hydrocephalus, Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, ... |
ORPHA:91348 |
Tufted Angioma |
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Megakaryocytopenia, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma... |
ORPHA:1063 |
Beckwith-Wiedemann Syndrome |
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Neoplasm, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Neuroblastoma, Cryptorchidi... |
ORPHA:116 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Arachnodactyly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the u... |
ORPHA:243 |
Immunodeficiency 57 With Autoinflammation |
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Failure to thrive, B lymphocytopenia, T lymphocytopenia, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Nephroblastoma, Adrenocortical cytomegaly, ... |
OMIM:130650 |
Wolfram Syndrome, Mitochondrial Form |
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Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Central Precocious Puberty |
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Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Cafe-au... |
ORPHA:759 |
Familial Thrombocytosis |
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Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Weight loss, Acute my... |
ORPHA:71493 |
Thrombocythemia 2 |
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Thrombocytosis, Increased megakaryocyte count |
OMIM:601977 |
Chilblain Lupus |
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Chronic myelomonocytic leukemia |
ORPHA:90280 |
Band Heterotopia |
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Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Melanosis, Neurocutaneous |
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Hydrocephalus, Melanoma, Meningioma, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Coffin-Siris Syndrome |
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Hepatoblastoma, Hypospadias, Short 5th finger, Papillary thyroid carcinoma, Clinodactyly, Cryptor... |
ORPHA:1465 |
Hemochromatosis, Type 2B |
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Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... |
OMIM:613313 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Spermatogenic Failure 38 |
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Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Spermatogenic Failure 15 |
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Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Acute Promyelocytic Leukemia |
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Bone marrow hypercellularity, Neutropenia, Leukocytosis, Leukopenia, Pancytopenia, Anemia, Thromb... |
ORPHA:520 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Immunodeficiency 27A |
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Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Fetal Gaucher Disease |
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Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia |
ORPHA:85212 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... |
OMIM:242700 |
Gorlin Syndrome |
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Neoplasm, Hydrocephalus, Arachnodactyly, Hypogonadotropic hypogonadism, Brachydactyly, Melanocyti... |
ORPHA:377 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Pancytopenia |
OMIM:617341 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Lymphopenia, Aplastic anemia, Myelodysplasia, Bone marrow hypocellularity, Squamous cell carcinom... |
OMIM:127550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Phosphoglycerate Dehydrogenase Deficiency |
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Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Agammaglobulinemia 2, Autosomal Recessive |
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Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Mismatch Repair Cancer Syndrome 1 |
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Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Hemochromatosis, Type 2A |
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Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hy... |
OMIM:602390 |
Slc35A1-Cdg |
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Abnormal megakaryocyte morphology, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal plate... |
ORPHA:238459 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
Immunodeficiency 72 With Autoinflammation |
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Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Methylmalonic Aciduria, Cblb Type |
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Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251110 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia |
ORPHA:251009 |
Cyanosis, Transient Neonatal |
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Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Satoyoshi Syndrome |
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Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... |
ORPHA:3130 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Syndromic Recessive X-Linked Ichthyosis |
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Testicular seminoma, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Azoospermia, Obstructive, With Nephrolithiasis |
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Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Spermatogenic Failure 75 |
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Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Obesity Due To Congenital Leptin Deficiency |
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Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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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 |
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Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ... |
ORPHA:543 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia,... |
OMIM:260400 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, B lymphocytopenia, Lymph... |
OMIM:614700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Ataxia-Telangiectasia |
|
Failure to thrive, Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma,... |
OMIM:208900 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma, Anemia, Pancytopenia |
OMIM:613951 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... |
ORPHA:158048 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 rat... |
OMIM:618495 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, External genital hypoplasia, Clinodac... |
ORPHA:96334 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 54 |
|
Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphoprolifer... |
OMIM:609981 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251100 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, Duodenal poly... |
ORPHA:261584 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hemangiomatosis, Visceral angiomatosis |
ORPHA:2123 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, De... |
ORPHA:1916 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Diencephalic Syndrome |
|
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis, Large hands, Neoplasm ... |
ORPHA:1672 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|