| 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:0000172 | Abnormality of the uvula | "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:curators] |
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| HP:0000282 | Facial edema | |
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| HP:0001600 | Abnormality of the larynx | |
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| HP:0001609 | Hoarse voice | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002018 | Nausea | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002615 | Hypotension | |
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| HP:0002725 | Systemic lupus erythematosus | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0005225 | Intestinal edema | |
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| HP:0005348 | Inspiratory stridor | "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] |
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| HP:0005483 | Abnormality of the epiglottis | |
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| HP:0007514 | Edema of the dorsum of hands and feet | "An abnormal accumulation of fluid beneath the skin on the back of the hands and feet." [HPO:curators] |
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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:0011855 | Pharyngeal edema | "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] |
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| HP:0011971 | Dermatographic urticaria | "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson] |
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| HP:0012027 | Laryngeal edema | "An abnormal accumulation of fluid and swelling in the tissues of the `larynx` (FMA:55097)." [HPO:probinson] |
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| HP:0025349 | Limbal edema | "Swelling of the margin of the cornea overlapped by the sclera." [] |
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| HP:0040315 | Tongue edema | |
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| HP:0100665 | Angioedema | "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands." [HPO:sdoelken] |
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| HP:0100755 | Abnormality of salivation | |
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