| 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:0000799 | Fatty kidneys | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0001138 | Optic neuropathy | |
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| HP:0001369 | Arthritis | |
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| HP:0001392 | Abnormality of the liver | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001574 | Integument abnormality | |
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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:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [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:0001902 | Giant platelets | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0002027 | Abdominal pain | |
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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:0003540 | Abnormal platelet aggregation | |
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| HP:0004381 | Supravalvular aortic stenosis | |
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| HP:0004416 | Precocious atherosclerosis | |
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| HP:0004446 | Stomatocytosis | |
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| HP:0004802 | episodic hemolytic anemia | |
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| HP:0004870 | chronic hemolytic anemia | |
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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:0008158 | Hyperapobetalipoproteinemia | |
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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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