| 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:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000246 | Sinusitis | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000988 | Skin rash | |
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| HP:0001287 | Meningitis | |
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| HP:0001369 | Arthritis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001875 | Neutropenia | |
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| HP:0001944 | Dehydration | |
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| HP:0001945 | Fever | |
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| HP:0002014 | Diarrhea | |
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| HP:0002024 | Malabsorption | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002754 | Osteomyelitis | |
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| HP:0003593 | Early onset | |
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| HP:0004432 | Agammaglobulinemia | |
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| HP:0008572 | External ear malformation | |
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| HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0100658 | Cellulitis | |
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| HP:0100806 | Sepsis | |
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| HP:0200043 | verrucae | "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER] |
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