| 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:0000083 | Renal failure | |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000365 | Hearing loss | |
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| HP:0000421 | Epistaxis | |
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| HP:0000520 | Proptosis | |
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| HP:0000573 | Retinal hemorrhage | |
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| HP:0000965 | Cutis marmorata | |
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| HP:0000979 | Purpura | |
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| HP:0000980 | Pallor | |
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| HP:0001025 | Urticaria | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001897 | Normocytic anemia | |
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| HP:0001909 | Leukemia | "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators] |
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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:0002039 | Anorexia | |
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| HP:0002076 | Migraine | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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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:0002354 | Memory impairment | |
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| HP:0002633 | Vasculitis | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | |
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| HP:0003459 | Polyclonal elevation of IgM | |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0004372 | Reduced consciousness/confusion | |
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| HP:0005406 | Recurrent bacterial skin infections | |
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| HP:0005508 | Waldenstrom macroglobulinemia | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010741 | Edema of the lower limbs | |
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| HP:0010841 | Multifocal EEG abnormality | "A abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [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:0100539 | Periorbital edema | |
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| HP:0100724 | Hypercoagulability | |
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| HP:0100778 | Cryoglobulinemia | |
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