| 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:0000488 | Retinopathy | |
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| HP:0000618 | Blindness | |
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| HP:0000963 | Thin skin | |
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| HP:0000979 | Purpura | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001038 | Warfarin-induced skin necrosis | |
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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:0002204 | Pulmonary embolism | |
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| HP:0002625 | Deep venous thrombosis | |
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| HP:0002638 | Superficial thrombophlebitis | |
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| HP:0004418 | Thrombophlebitis | |
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| HP:0004420 | Arterial thrombosis | |
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| HP:0004855 | protein S deficiency | |
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| HP:0005293 | Frequent early-onset venous insufficiency | |
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| HP:0005305 | Cerebral venous thrombosis | |
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| HP:0005521 | Disseminated intravascular coagulation | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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| HP:0100724 | Hypercoagulability | |
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| HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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