| 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:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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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:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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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:0002619 | Varicose veins | |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0004947 | Arteriovenous fistulas | |
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| HP:0005306 | Capillary hemangiomas | "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators] |
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| HP:0010484 | Hypertrophy of the upper limb | "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators] |
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| HP:0010496 | Hypertrophy of the lower limb | "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [HPO:curators] |
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| HP:0100026 | Arteriovenous malformations | |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100784 | Peripheral arteriovenous fistula | |
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