| 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:0000225 | Gingival bleeding | |
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| HP:0000421 | Epistaxis | |
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| HP:0000967 | Petechiae | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000979 | Purpura | |
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| HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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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:0001878 | Hemolytic anemia | |
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| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0004446 | Stomatocytosis | |
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| HP:0004854 | intermittent thrombocytopenia | |
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| HP:0006298 | Prolonged bleeding after dental extraction | |
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| HP:0011877 | Increased mean platelet volume | "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand] |
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