Myeloproliferative Syndrome, Transient |
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Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
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T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Erythroleukemia, Familial, Susceptibility To |
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Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acu... |
OMIM:133180 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Juvenile Myelomonocytic Leukemia |
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Juvenile myelomonocytic leukemia |
OMIM:607785 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Myeloproliferative Disease, Autosomal Recessive |
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Myeloproliferative disorder |
OMIM:254700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Leukemia, Acute, X-Linked |
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Acute leukemia |
OMIM:308960 |
Leukemia, Acute Monocytic |
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Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
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Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
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Acute myeloid leukemia |
OMIM:601626 |
Mismatch Repair Cancer Syndrome 2 |
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T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Fanconi Anemia, Complementation Group G |
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Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:619041 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Nut Midline Carcinoma |
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Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune thrombocytopen... |
OMIM:614470 |
Lymphedema, Primary, With Myelodysplasia |
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Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Li-Fraumeni Syndrome |
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Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Immunodeficiency 21 |
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Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
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Leukemia, Aplastic anemia, Myeloid leukemia, Pancytopenia |
OMIM:614743 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Generalized Eruptive Histiocytosis |
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Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Multiple lineage myelodysplasia, Myelodysplasia, Leukocytosis |
ORPHA:98827 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... |
ORPHA:158057 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
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Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
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Chronic lymphatic leukemia |
OMIM:151400 |
Dohle Bodies And Leukemia |
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Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
N Syndrome |
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Neoplasm, Leukemia |
OMIM:310465 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Storage Pool Platelet Disease |
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Myelodysplasia, Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Leukemia, Chronic Myeloid |
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Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Primary Erythromelalgia |
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Leukemia |
ORPHA:90026 |
Wt Limb-Blood Syndrome |
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Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
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Myeloid leukemia |
OMIM:616604 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Cutaneous Neuroendocrine Carcinoma |
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Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
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Chronic myelogenous leukemia |
OMIM:600080 |
Primary Myelofibrosis |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenomegaly, Hematol... |
ORPHA:824 |
Mismatch Repair Cancer Syndrome 1 |
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Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Acute Promyelocytic Leukemia |
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Acute promyelocytic leukemia |
OMIM:612376 |
Tumor Predisposition Syndrome 2 |
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Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Amed Syndrome, Digenic |
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Leukopenia, Myelodysplasia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Autosomal Dominant Severe Congenital Neutropenia |
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Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Acute lympho... |
ORPHA:486 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Multiple myeloma, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myelop... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group D1 |
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T-cell acute lymphoblastic leukemias, Acute myeloid leukemia |
OMIM:605724 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Aplastic anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Anemia |
OMIM:614742 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Osteopetrosis, Autosomal Recessive 2 |
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Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Essential Thrombocythemia |
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Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, H... |
ORPHA:98850 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
Refractory Anemia With Excess Blasts |
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Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... |
ORPHA:86839 |
Acute Panmyelosis With Myelofibrosis |
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Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia |
ORPHA:86843 |
Thymoma |
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Neoplasm, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm... |
ORPHA:99867 |
Immunodeficiency 36 |
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B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decrea... |
OMIM:616005 |
Hereditary Spherocytosis |
|
Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Acute Monoblastic/Monocytic Leukemia |
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Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia |
ORPHA:514 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Syndromic Recessive X-Linked Ichthyosis |
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Acute leukemia, Testicular seminoma |
ORPHA:281090 |
Autoimmune Hemolytic Anemia, Warm Type |
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Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia, Splenomegaly |
ORPHA:90033 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:259730 |
Retinoblastoma |
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Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Turcot Syndrome With Polyposis |
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Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia |
ORPHA:48104 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Acute myeloid leukemia |
ORPHA:71493 |
Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Leukocytosis, Pancytopenia |
ORPHA:99812 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Extramedullary hematopoiesis |
ORPHA:79303 |
Sweet Syndrome |
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Neoplasm, Neutrophilia, Leukocytosis, Breast carcinoma, Sterile abscess, Hematological neoplasm, ... |
ORPHA:3243 |
Osteopetrosis, Autosomal Recessive 5 |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... |
OMIM:259720 |
Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Myeloproliferative disorder, Abnormal erythrocyte enzyme level |
ORPHA:100924 |
Mastocytosis |
|
Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Fanconi Anemia, Complementation Group A |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227650 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... |
ORPHA:811 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Persistence of hemoglobin F, Myelodysplasia, Pancytopenia, Anemia, Thrombocytopenia,... |
OMIM:260400 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophils, Monoclonal immunoglobulin ... |
ORPHA:33226 |
Ataxia-Telangiectasia |
|
Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma, Lymphoma, T lympho... |
OMIM:208900 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Fanconi Anemia, Complementation Group C |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227645 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Myelodysplasia, Leukemia |
OMIM:619951 |
Wiskott-Aldrich Syndrome |
|
Neoplasm, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Lymphoma, Hemoly... |
ORPHA:906 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Malignant genitourinary tract tumor, Neutropenia, Persistence ... |
ORPHA:124 |
Rothmund-Thomson Syndrome Type 1 |
|
Melanoma, Aplastic anemia, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosa... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
|
Melanoma, Aplastic anemia, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Neutrop... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Melanoma, Aplastic anemia, Lymphoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinom... |
ORPHA:221016 |
Nijmegen Breakage Syndrome |
|
B-cell lymphoma, Neoplasm, Glioma, Rhabdomyosarcoma, Lymphoma, Hemolytic anemia, T-cell lymphoma,... |
ORPHA:647 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Myeloid leukemia |
ORPHA:404443 |
Bloom Syndrome |
|
Neoplasm of the colon, Esophageal neoplasm, Malignant genitourinary tract tumor, Abnormal proport... |
ORPHA:125 |
Polycythemia Vera |
|
Myelodysplasia, Acute leukemia, Splenomegaly |
ORPHA:729 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia |
OMIM:208910 |
Legius Syndrome |
|
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... |
ORPHA:137605 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
Fanconi Anemia, Complementation Group D2 |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227646 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Acute myeloid leukemia, Pancytopenia |
OMIM:617052 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Myelodysplasia, Anemia, Acute myeloid leukemia, Neutropenia |
OMIM:601347 |
Bloom Syndrome |
|
Squamous cell carcinoma, Elevated hemoglobin A1c, Leukemia, Lymphoma |
OMIM:210900 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Multiple my... |
ORPHA:91139 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... |
ORPHA:3260 |
Down Syndrome |
|
Acute megakaryocytic leukemia |
ORPHA:870 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Rhabdomyosarcoma, Nephroblastoma |
OMIM:257300 |
Noonan Syndrome 2 |
|
Leukemia |
OMIM:605275 |
Dyskeratosis Congenita, X-Linked |
|
Hodgkin lymphoma, Leukopenia, Squamous cell carcinoma, Myelodysplasia, Pancytopenia, Anemia, Thro... |
OMIM:305000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Neoplasm, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelodysplasia, Intestinal polyposis,... |
ORPHA:1052 |
Dubowitz Syndrome |
|
Neoplasm, Lymphoma, Thrombocytopenia, Abnormality of neutrophils, Anemia, Acute lymphoblastic leu... |
ORPHA:235 |
17Q11 Microdeletion Syndrome |
|
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Breast carcinoma, Gastr... |
ORPHA:97685 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Aplastic anemia, Lymphoma, Neuroblastoma |
OMIM:223370 |
Cryptococcosis |
|
Neoplasm, Lymphoid leukemia |
ORPHA:1546 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Acute lymphoblastic leukemia |
OMIM:280000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Ellis Van Creveld Syndrome |
|
Acute leukemia |
ORPHA:289 |
Rubinstein-Taybi Syndrome 1 |
|
Neoplasm, Papillary cystadenoma of the epididymis, Accessory spleen, Hepatic hemangioma, Capillar... |
OMIM:180849 |
Schinzel-Giedion Syndrome |
|
Hepatoblastoma, Teratoma, Nephroblastoma, Facial hemangioma, Myeloid leukemia, Ependymoma, Sacroc... |
ORPHA:798 |
Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:613563 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia |
OMIM:609942 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Enchondroma |
ORPHA:51 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
Poland Syndrome |
|
Acute leukemia, Neoplasm of the breast, Retinal hamartoma |
ORPHA:2911 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Neoplasm of the liver, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopenia, Acute promyel... |
ORPHA:77293 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Perianal abscess, Abn... |
ORPHA:2968 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Sotos Syndrome |
|
Neoplasm, Neuroblastoma, Hemangioma, Small cell lung carcinoma, Cholesteatoma, Sacrococcygeal ter... |
ORPHA:821 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Lymphangioma, Acute myelomonocytic leukemia, Cavernous hemangioma of the face, Multiple enchondro... |
ORPHA:99646 |