Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
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Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... |
OMIM:133180 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... |
OMIM:153600 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
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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Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia |
OMIM:252270 |
Myeloproliferative Disease, Autosomal Recessive |
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Myeloproliferative disorder |
OMIM:254700 |
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 |
Fanconi Anemia, Complementation Group G |
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Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Glioma Susceptibility 3 |
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Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Mismatch Repair Cancer Syndrome 2 |
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Glioblastoma multiforme, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis |
OMIM:616871 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... |
OMIM:614470 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Lymphedema, Primary, With Myelodysplasia |
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Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
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Pancytopenia, Myeloid leukemia, Aplastic anemia, Leukemia |
OMIM:614743 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Acute myeloid leukemia |
OMIM:246470 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia |
ORPHA:98827 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Immunodeficiency 21 |
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Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
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Chronic lymphatic leukemia |
OMIM:151400 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
N Syndrome |
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Leukemia, Neoplasm |
OMIM:310465 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... |
OMIM:601399 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro... |
ORPHA:75564 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Leukemia, Chronic Myeloid |
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Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Fanconi Anemia, Complementation Group T |
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Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Wt Limb-Blood Syndrome |
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Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Cutaneous Neuroendocrine Carcinoma |
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Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, 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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Pancytopenia, Extramedullary hematopoiesis, Hematological neoplasm, Thrombocytopenia, Leukocytosi... |
ORPHA:824 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... |
ORPHA:486 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Amed Syndrome, Digenic |
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Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Anemia |
OMIM:619151 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
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Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia |
OMIM:614742 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Leukemia, Meningioma |
OMIM:602501 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... |
ORPHA:98850 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B... |
OMIM:616005 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... |
ORPHA:99867 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia |
ORPHA:90033 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Lig4 Syndrome |
|
Leukocytosis, Lymphoma, Pancytopenia, Acute leukemia |
ORPHA:99812 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis |
ORPHA:79303 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... |
ORPHA:3243 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia, Myelodysplasia |
OMIM:606593 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Persistence of hemoglobin... |
OMIM:260400 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Monoclonal immun... |
ORPHA:33226 |
Ataxia-Telangiectasia |
|
Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the th... |
OMIM:208900 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Basal cell carcinoma, Melanom... |
ORPHA:221016 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Neutropenia,... |
ORPHA:124 |
Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom... |
ORPHA:647 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... |
ORPHA:125 |
Polycythemia Vera |
|
Splenomegaly, Myelodysplasia, Acute leukemia |
ORPHA:729 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
Bloom Syndrome |
|
Leukemia, Lymphoma, Elevated hemoglobin A1c, Squamous cell carcinoma |
OMIM:210900 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia |
OMIM:257300 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
Down Syndrome |
|
Acute megakaryocytic leukemia |
ORPHA:870 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Myelodysplasia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:3260 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple myeloma, Chronic lymphatic leu... |
ORPHA:91139 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... |
OMIM:305000 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Lymphoma, Acute lymphoblastic leukemia, Neoplasm, A... |
ORPHA:235 |
Noonan Syndrome 2 |
|
Leukemia |
OMIM:605275 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Aplastic anemia |
OMIM:223370 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... |
ORPHA:1052 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm |
ORPHA:1546 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Ellis Van Creveld Syndrome |
|
Acute leukemia |
ORPHA:289 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic hemangioma, Capillar... |
OMIM:180849 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Nephroblastoma, Ependymoma, Teratoma, Hepatoblastoma, Myeloid leukemia, ... |
ORPHA:798 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Splenomegaly, Juvenile myelomonocytic leukemia, Hepatosplenomegaly |
OMIM:613563 |
Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia |
OMIM:609942 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Neoplasm, Myeloproliferative disorder |
ORPHA:70591 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Acute lymphoblastic leukemia |
OMIM:280000 |
Poland Syndrome |
|
Retinal hamartoma, Neoplasm of the breast, Acute leukemia |
ORPHA:2911 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy... |
ORPHA:77293 |
Noonan Syndrome 1 |
|
Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp... |
ORPHA:2968 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne... |
ORPHA:821 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Caver... |
ORPHA:99646 |