| 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:0000965 | Cutis marmorata | |
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| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001882 | Leukopenia | |
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| HP:0001894 | Thrombocytosis | |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002205 | Recurrent respiratory infections | |
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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:0002829 | Arthralgia | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0003828 | Variable expressivity | |
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| HP:0006530 | Interstitial pulmonary disease | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [HPO:probinson] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [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:0030880 | Raynaud phenomenon | |
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| HP:0100614 | Myositis | "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] |
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| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
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