| HP:0000230 | Gingivitis | |
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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:0001875 | Neutropenia | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0002014 | Diarrhea | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002720 | Decreased IgA | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002847 | Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation | |
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| HP:0002849 | Lymph nodes lack germinal centers | |
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| HP:0002959 | Impaired Ig class switch recombination (CSR) | |
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| HP:0002961 | Dysgammaglobulinemia | |
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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:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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| HP:0005419 | Decreased T cell activation | |
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| HP:0005479 | Decreased IgE | |
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| HP:0010280 | Stomatitis | "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators] |
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| HP:0030812 | Enlarged tonsils | "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [] {comment="HPO:probinson"} |
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| HP:0200123 | Chronic hepatitis | |
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