| 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:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000546 | Retinal degeneration | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001315 | Reduced reflexes | |
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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:0001677 | Coronary artery disease | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0001927 | Red cell acanthocytosis | "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators] |
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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:0003563 | Hypobetalipoproteinemia | |
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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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