Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
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T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Glioma Susceptibility 9 |
|
Leukemia, Glioma, 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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Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Myeloproliferative Disease, Autosomal Recessive |
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Myeloproliferative disorder |
OMIM:254700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, 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 |
Fanconi Anemia, Complementation Group G |
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Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Mismatch Repair Cancer Syndrome 2 |
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T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer |
OMIM:619096 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Acute myeloid leukemia, P... |
OMIM:619041 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Lymphoma, Acute myeloid leukemia |
OMIM:616871 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... |
ORPHA:231401 |
Nut Midline Carcinoma |
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Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenomegaly, Autoimm... |
OMIM:614470 |
Li-Fraumeni Syndrome |
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Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... |
ORPHA:524 |
Immunodeficiency 21 |
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Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... |
OMIM:614172 |
Li-Fraumeni Syndrome |
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Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
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Leukemia, Myeloid leukemia, Aplastic anemia, Pancytopenia |
OMIM:614743 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Multiple lineage myelodysplasia, E... |
ORPHA:86841 |
Immunodeficiency, Common Variable, 13 |
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Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Unclassified Myelodysplastic Syndrome |
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Leukocytosis, Acute myeloid leukemia, Myelodysplasia, Multiple lineage myelodysplasia |
ORPHA:98827 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... |
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 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... |
OMIM:601399 |
N Syndrome |
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Leukemia, Neoplasm |
OMIM:310465 |
Lymphedema, Primary, With Myelodysplasia |
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Leukemia, Myelodysplasia, Pancytopenia |
OMIM:614038 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
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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Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
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Myeloid leukemia |
OMIM:616604 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
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, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
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Chronic myelogenous leukemia |
OMIM:600080 |
Primary Myelofibrosis |
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Leukocytosis, Thrombocytosis, Hemangioma, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosi... |
ORPHA:824 |
Mismatch Repair Cancer Syndrome 1 |
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Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... |
OMIM:276300 |
Acute Promyelocytic Leukemia |
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Acute promyelocytic leukemia |
OMIM:612376 |
Amed Syndrome, Digenic |
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Myelodysplasia, Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Monocytosis, Leukemia, Hemangioma, Acu... |
ORPHA:486 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Myelodysplasia, Multiple myeloma, No... |
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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Myelodysplasia, Anemia, Myeloid leukemia, Pancytopenia, Aplastic anemia |
OMIM:614742 |
Osteopetrosis, Autosomal Recessive 2 |
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Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia |
OMIM:259710 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Essential Thrombocythemia |
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Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, B-cell lymphoma, Lymphopenia, Splenomegaly |
OMIM:616005 |
Aggressive Systemic Mastocytosis |
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Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Refractory Anemia With Excess Blasts |
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Leukocytosis, Abnormal mean corpuscular volume, Multiple lineage myelodysplasia, Acute myeloid le... |
ORPHA:86839 |
Thymoma |
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Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... |
ORPHA:99867 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia |
ORPHA:86843 |
Hereditary Spherocytosis |
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Anemia, Splenomegaly, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concent... |
ORPHA:822 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Erythroid hyperplasia, Hepatocellular carcinoma, Persistence of hemoglobin F, Splen... |
ORPHA:231222 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... |
OMIM:259720 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Autoimmune Hemolytic Anemia, Warm Type |
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Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Syndromic Recessive X-Linked Ichthyosis |
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Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Retinoblastoma |
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Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma |
OMIM:180200 |
Turcot Syndrome With Polyposis |
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Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... |
ORPHA:99818 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis |
OMIM:259730 |
Dominant Beta-Thalassemia |
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Hypochromic microcytic anemia, Hepatocellular carcinoma, Persistence of hemoglobin F, Splenomegal... |
ORPHA:231226 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
Nasu-Hakola Disease |
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Acute leukemia |
ORPHA:2770 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persi... |
ORPHA:231214 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Familial Thrombocytosis |
|
Thrombocytosis, Myelodysplasia, Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia |
ORPHA:71493 |
Lig4 Syndrome |
|
Pancytopenia, Leukocytosis, Lymphoma, Acute leukemia |
ORPHA:99812 |
Porphyria Due To Ala Dehydratase Deficiency |
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Myeloproliferative disorder, Abnormal erythrocyte enzyme level |
ORPHA:100924 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neoplasm, Breast carcinoma, Ac... |
ORPHA:3243 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Extramedullary hematopoiesis |
ORPHA:79303 |
Mastocytosis |
|
Acute leukemia, Chronic leukemia, Splenomegaly, Sarcoma, Mastocytosis |
ORPHA:98292 |
Fanconi Anemia, Complementation Group E |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Ataxia-Telangiectasia |
|
Hodgkin lymphoma, Leukemia, Hypoplasia of the thymus, Lymphoma, Decreased proportion of CD4-posit... |
OMIM:208900 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Myelodysplasia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancyto... |
OMIM:260400 |
Bloom Syndrome |
|
Leukemia, Squamous cell carcinoma, Lymphoma |
OMIM:210900 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Abn... |
ORPHA:33226 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Retinoblastoma |
|
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... |
ORPHA:790 |
Down Syndrome |
|
Acute megakaryocytic leukemia, Myeloproliferative disorder |
OMIM:190685 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Basal cell carcinoma, Anemia, Osteos... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Basal cell carcinoma, Anemia, Squamo... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Basal cell carcinoma, Anemia, Lympho... |
ORPHA:221016 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Rhabdomyosarcoma, Neoplasm, Lymphoma, B-cell lymphoma, Thrombocytopenia, Glioma, ... |
ORPHA:647 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Bloom Syndrome |
|
Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract tumor, Myelodys... |
ORPHA:125 |
Polycythemia Vera |
|
Myelodysplasia, Acute leukemia, Splenomegaly |
ORPHA:729 |
Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia |
OMIM:208910 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Desmoid tumors, Acute mon... |
ORPHA:137605 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227646 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... |
ORPHA:636 |
Bone Marrow Failure Syndrome 3 |
|
Pancytopenia, Acute myeloid leukemia, Aplastic anemia |
OMIM:617052 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Myelodysplasia, Neutropenia |
OMIM:601347 |
Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
Greenberg Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:215140 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, B-cell lymphoma, Multiple my... |
ORPHA:91139 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Myelodysplasia, Anemia, Splenomegaly, Myeloproliferative disorder, ... |
ORPHA:3260 |
Down Syndrome |
|
Acute megakaryocytic leukemia |
ORPHA:870 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Nephroblastoma, Rhabdomyosarcoma |
OMIM:257300 |
Dyskeratosis Congenita, X-Linked |
|
Myelodysplasia, Hodgkin lymphoma, Leukopenia, Carcinoma, Anemia, Acute myeloid leukemia, Squamous... |
OMIM:305000 |
Noonan Syndrome 2 |
|
Leukemia |
OMIM:605275 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Myelodysplasia, Stomach cancer, Rhabdomyosarcoma, Neoplasm, Vaginal... |
ORPHA:1052 |
Dubowitz Syndrome |
|
Neuroblastoma, Acute lymphoblastic leukemia, Aplastic anemia, Lymphoma |
OMIM:223370 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Anemia, Neoplasm, Lymphoma, Thrombocytopenia, Abnormality of neutro... |
ORPHA:235 |
17Q11 Microdeletion Syndrome |
|
Pheochromocytoma, Myelodysplasia, Gastrointestinal stroma tumor, Rhabdomyosarcoma, Plexiform neur... |
ORPHA:97685 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm |
ORPHA:1546 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Acute lymphoblastic leukemia |
OMIM:280000 |
Ellis Van Creveld Syndrome |
|
Acute leukemia |
ORPHA:289 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Schinzel-Giedion Syndrome |
|
Ependymoma, Hepatoblastoma, Facial hemangioma, Teratoma, Myeloid leukemia, Nephroblastoma, Sacroc... |
ORPHA:798 |
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 |
|
Enchondroma, Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia |
ORPHA:51 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
Poland Syndrome |
|
Neoplasm of the breast, Retinal hamartoma, Acute leukemia |
ORPHA:2911 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Neoplasm of the liver, Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Autoimmune thro... |
ORPHA:77293 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Acute myeloid leukemia, Perianal abscess, Abnormality... |
ORPHA:2968 |
Rubinstein-Taybi Syndrome 1 |
|
Leukemia, Papillary cystadenoma of the epididymis, Capillary hemangioma, Neoplasm |
OMIM:180849 |
Noonan Syndrome 1 |
|
Neurofibrosarcoma, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Sotos Syndrome |
|
Neuroblastoma, Acute lymphoblastic leukemia, Astrocytoma, Cholesteatoma, Hemangioma, Neoplasm, Sa... |
ORPHA:821 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cavernous hemangioma, Lymphangioma, Acute myelomonocytic leukemia, Cavernous hemangioma of the fa... |
ORPHA:99646 |