| HP:0001287 | Meningitis | |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001876 | Pancytopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002383 | Encephalitis | |
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| HP:0002480 | Hepatic encephalopathy | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003496 | Increased IgM level | "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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| HP:0004787 | Fulminant hepatitis | |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0011900 | Hypofibrinogenemia | "Decreased concentration of fibrinogen in the blood." [HPO:probinson] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0012156 | Hemophagocytosis | "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] |
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| HP:0012178 | Reduced natural killer cell activity | "Reduced ability of the `natural killer cell` (CL:0000623) to function in the adaptive immune response." [HPO:probinson] |
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| HP:0100776 | Recurrent pharyngitis | "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] |
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