| 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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
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| HP:0000155 | Oral ulcers | |
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| HP:0000670 | Carious teeth | |
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| HP:0000704 | Periodontal disease | |
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| HP:0001507 | Growth abnormality | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001845 | Overriding toes | "A congenital condition in which a toe is adducted, dorsifelxed, and medially deviated, generally lying over the metatarsal phalangeal joint of the adjacent toe. Usually, the fifth toe is affected." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001879 | Abnormality of eosinophils | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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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:0002027 | Abdominal pain | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0003593 | Early onset | |
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| HP:0004845 | Acute monocytic leukemia | |
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| HP:0005541 | Congenital agranulocytosis | |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [HPO:probinson] |
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| HP:0011107 | Recurrent aphthous stomatitis | "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson] |
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| HP:0012311 | Monocytosis | "An increased number of circulating `monocytes` (CL:0000576)." [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:0040289 | Cyclic neutropenia | |
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| HP:0100806 | Sepsis | |
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