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:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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HP:0001050 | Plethora | |
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HP:0001063 | Acrocyanosis | |
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HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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HP:0001428 | Somatic mutation | |
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HP:0001658 | Myocardial infarction | |
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HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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HP:0001894 | Thrombocytosis | |
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HP:0001898 | Increased red blood cell mass | |
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HP:0001899 | Increased hematocrit | |
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HP:0001900 | Increased hemoglobin | |
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HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [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:0002326 | Transient ischemic attack | |
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HP:0002488 | Acute leukemia | |
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HP:0002641 | Peripheral thrombosis | |
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HP:0002863 | Myelodysplasia | |
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HP:0002875 | Exertional dyspnea | |
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HP:0003010 | Prolonged bleeding time | |
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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:0003540 | Abnormal platelet aggregation | |
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HP:0004420 | Arterial thrombosis | |
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HP:0004936 | Venous thrombosis | |
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HP:0005513 | Increased megakaryocyte precursor cells | |
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HP:0005547 | Myeloproliferative disorder | |
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HP:0011875 | Abnormal platelet morphology | "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] |
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HP:0011974 | Myelofibrosis | "Replacement of bone marrow by fibrous tissue." [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:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
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HP:0100749 | Chest pain | |
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