| 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:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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| HP:0001667 | Right ventricular hypertrophy | "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. This feature can also be a component of the separat entity tetralogy of Fallot in which case it is generally agreed to be a secondary anomaly, as the level of hypertrophy generally increases with age." [HPO:curators] |
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| HP:0001708 | Right ventricular failure | |
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| HP:0001977 | Thrombosis | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002094 | Dyspnea | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004964 | Arteries show medial hypertrophy | |
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| HP:0005168 | Elevated right atrial pressure | |
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| HP:0005308 | Pulmonary artery vasoconstriction | |
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| HP:0005312 | Arteries show intimal fibrosis | |
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| HP:0005317 | Increased pulmonary vascular resistance | |
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| HP:0006518 | Pulmonary venoocclusive disease | |
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| HP:0011353 | Arterial intimal fibrosis | "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [HPO:probinson] |
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| HP:0030848 | Elevated jugular venous pressure | "Increased jugular venous pressure." [] |
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