| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0001025 | Urticaria | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0001890 | Autoimmune hemolytic anemia | |
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| HP:0001891 | Iron deficiency anemia | |
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| HP:0001904 | Autoimmune neutropenia | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002633 | Vasculitis | |
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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:0002729 | Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells | |
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| HP:0002730 | Chronic noninfectious lymphadenopathy | |
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| HP:0002731 | Defective lymphocyte apoptosis | |
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| HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | |
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| HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells | |
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| HP:0002923 | Rheumatoid factor positive | |
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| HP:0002972 | Reduced delayed hypersensitivity | |
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| HP:0003237 | Increased IgG level | "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] |
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| HP:0003261 | Increased IgA level | "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] |
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| HP:0003262 | Smooth muscle antibody positive | |
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| HP:0003453 | Neutrophil antibody positive | |
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| HP:0003454 | Platelet antibody positive | |
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| HP:0003493 | Antinuclear antibody positive | |
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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:0003613 | Phospholipid antibody positive | |
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| HP:0003621 | Juvenile onset | |
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| HP:0004844 | coombs-positive hemolytic anemia | |
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| HP:0005404 | Increased number of B cells | |
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| HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0025300 | Malar rash | "An erythematous (red), flat facial rash that affects the skin in the maler area (over the cheekbones) and extends over thebridge of the nose." [] |
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| HP:0410067 | Increased level of L-fucose in urine | "An increase in the level of L-fucose in the urine." [PMID:2311216] |
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