| 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:0000132 | Menorrhagia | |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000421 | Epistaxis | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0002863 | Myelodysplasia | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003676 | Progressive disorder | |
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| HP:0008320 | Reduced platelet aggregation response to collagen and thrombin | |
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| HP:0008330 | Decreased von Willebrand factor | |
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| HP:0011872 | Impaired thrombin-induced platelet aggregation | "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [DDD:wouwehand] |
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| HP:0011974 | Myelofibrosis | "Replacement of bone marrow by fibrous tissue." [HPO:probinson] |
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| HP:0012147 | Reduced quantity of Von Willebrand factor | "Decreased quantity of `von Willebrand factor` (PR:000017364)." [DDD:akelly] |
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