| 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 |
|
