| 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: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:0000389 | Chronic otitis media | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000465 | Webbed neck | |
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| HP:0000572 | Visual loss | |
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| HP:0000587 | Abnormality of the optic nerve | "Abnormality of the optic nerve (also known as cranial nerve II), which transmits visual information from the retina to the brain." [HPO:curators] |
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| HP:0000601 | Hypotelorism | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000980 | Pallor | |
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| HP:0001004 | Lymphedema | |
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| HP:0001182 | Tapered fingers | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001876 | Pancytopenia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0001945 | Fever | |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002076 | Migraine | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002488 | Acute leukemia | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002841 | Fungal infections, recurrent | |
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| HP:0002863 | Myelodysplasia | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0005547 | Myeloproliferative disorder | |
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| HP:0011275 | Recurrent mycobacterium avium complex infections | "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] |
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| HP:0011991 | Abnormal neutrophil cell number | "A deviation from the normal range of neutrophil cell counts in the circulation." [HPO:probinson] |
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| HP:0012176 | Abnormality of natural killer cells | "An anomaly of the `natural killer cell` (CL:0000623), which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." [HPO:probinson, pmid:21212348] |
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| HP:0012312 | Monocytopenia | "An decreased 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:0100658 | Cellulitis | |
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| HP:0100724 | Hypercoagulability | |
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