| 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:0000799 | Fatty kidneys | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0001084 | Corneal arcus | "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators] |
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| HP:0001114 | Xanthelasma | "The presence of xanthomata in the skin of the eyelid." [HPO:curators] |
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| HP:0001138 | Optic neuropathy | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0002094 | Dyspnea | |
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| HP:0002829 | Arthralgia | |
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| HP:0003077 | Hyperlipidemia | |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003141 | Increased beta-lipoproteins | "An increase in the blood concentration of beta lipoprotein, which is a low-density lipoprotein involved in the blood transport of cholesterol." [HPO:curators] |
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| HP:0004381 | Supravalvular aortic stenosis | |
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| HP:0004416 | Precocious atherosclerosis | |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0004963 | Calcifications of the aorta | |
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| HP:0005162 | Impaired left ventricular function | |
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| HP:0005177 | Premature arteriosclerosis | |
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| HP:0005181 | Premature coronary artery disease | |
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| HP:0006693 | Myocardial steatosis | |
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| HP:0007201 | Cerebral artery atherosclerosis | |
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| HP:0010874 | Tendon xanthomatosis | "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [HPO:probinson] |
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| HP:0012373 | Abnormal eye physiology | "A functional anomaly of the `eye` (FMA:54448)." [HPO:probinson] |
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| HP:0012397 | Aortic atherosclerosis | "The presence of atheromas or atherosclerotic plaques in the `aorta` (FMA:3734)." [HPO:probinson, pmid:16818829] |
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| HP:0012638 | Abnormality of nervous system physiology | "A functional anomaly of the `nervous system` (FMA:7157)." [HPO:probinson] |
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| HP:0030148 | Heart murmur | "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson] |
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| HP:0030882 | Coronary artery dilation | |
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| HP:3000062 | Abnormality of internal carotid artery | "An abnormality of an internal carotid artery." [GOC:TermGenie] |
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