| 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] |
Show
|
| HP:0000799 | Fatty kidneys | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0001138 | Optic neuropathy | |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0001645 | Sudden cardiac death | |
Show
|
| 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] |
Show
|
| HP:0001658 | Myocardial infarction | |
Show
|
| HP:0001681 | Angina pectoris | |
Show
|
| HP:0001920 | Renal artery stenosis | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| HP:0002829 | Arthralgia | |
Show
|
| HP:0003077 | Hyperlipidemia | |
Show
|
| HP:0003124 | Hypercholesterolemia | |
Show
|
| 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] |
Show
|
| HP:0004381 | Supravalvular aortic stenosis | |
Show
|
| HP:0004416 | Precocious atherosclerosis | |
Show
|
| HP:0004950 | Peripheral arterial disease | |
Show
|
| HP:0004963 | Calcifications of the aorta | |
Show
|
| HP:0005162 | Impaired left ventricular function | |
Show
|
| HP:0005177 | Premature arteriosclerosis | |
Show
|
| HP:0005181 | Premature coronary artery disease | |
Show
|
| HP:0006693 | Myocardial steatosis | |
Show
|
| HP:0007201 | Cerebral artery atherosclerosis | |
Show
|
| 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] |
Show
|
| HP:0012373 | Abnormal eye physiology | "A functional anomaly of the `eye` (FMA:54448)." [HPO:probinson] |
Show
|
| HP:0012397 | Aortic atherosclerosis | "The presence of atheromas or atherosclerotic plaques in the `aorta` (FMA:3734)." [HPO:probinson, pmid:16818829] |
Show
|
| HP:0012638 | Abnormality of nervous system physiology | "A functional anomaly of the `nervous system` (FMA:7157)." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0030882 | Coronary artery dilation | |
Show
|
| HP:3000062 | Abnormality of internal carotid artery | "An abnormality of an internal carotid artery." [GOC:TermGenie] |
Show
|
