Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Juvenile Myelomonocytic Leukemia |
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Juvenile myelomonocytic leukemia |
OMIM:607785 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
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Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Mantle Cell Lymphoma |
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Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
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 |
Leukemia, Acute, X-Linked |
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Acute leukemia |
OMIM:308960 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... |
OMIM:619924 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... |
ORPHA:86893 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... |
OMIM:300400 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... |
OMIM:615513 |
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 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Immunodeficiency 16 |
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Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive |
ORPHA:172 |
Hemoglobin H Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hypertriglyceridemia, Transient Infantile |
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Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis |
OMIM:614480 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly |
OMIM:269840 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... |
ORPHA:169154 |
Galactose Epimerase Deficiency |
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Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... |
OMIM:614470 |
Follicular Lymphoma |
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Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Hypereosinophilic Syndrome, Idiopathic |
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Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
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 |
Galactosemia Iii |
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Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De... |
OMIM:619510 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... |
ORPHA:79301 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Immunodeficiency 84 |
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Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Immunodeficiency 76 |
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B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
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Chronic myelogenous leukemia |
OMIM:600080 |
Classic Hodgkin Lymphoma |
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Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... |
ORPHA:391 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Deafness-Lymphedema-Leukemia Syndrome |
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Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell ... |
OMIM:242700 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 54 |
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Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... |
OMIM:609981 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Splenoportal Vascular Anomalies |
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Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Osteopetrosis, Autosomal Recessive 8 |
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Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group E |
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Pancytopenia, Small for gestational age, Prolonged G2 phase of cell cycle, Reticulocytopenia, Ane... |
OMIM:600901 |
Immunodeficiency 7 |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Fanconi Anemia, Complementation Group A |
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Pancytopenia, Small for gestational age, Prolonged G2 phase of cell cycle, Reticulocytopenia, Ane... |
OMIM:227650 |
Portal Hypertension, Noncirrhotic, 1 |
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Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Fanconi Anemia, Complementation Group C |
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Pancytopenia, Small for gestational age, Prolonged G2 phase of cell cycle, Reticulocytopenia, Ane... |
OMIM:227645 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Patent ductus arteriosus, Prolonged G2 phase of cell cyc... |
OMIM:227646 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive |
OMIM:235555 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ach... |
OMIM:613812 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... |
ORPHA:71493 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... |
ORPHA:1572 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |