| 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:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000488 | Retinopathy | |
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| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000799 | Fatty kidneys | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000967 | Petechiae | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0001010 | Hypopigmentation of the skin | |
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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:0001300 | Parkinsonism | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001681 | Angina pectoris | |
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| HP:0001735 | Pancreatitis, acute | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001982 | Sea-blue histiocytes | |
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| HP:0001997 | Gout | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002185 | Neurofibrillary tangles | |
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| HP:0002221 | Absent axillary hair | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002423 | Long-tract signs | |
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| HP:0002511 | Alzheimer disease | |
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| HP:0002635 | Atheromatosis | |
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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:0003233 | Decreased HDL cholesterol | |
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| HP:0003584 | Late onset | |
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| HP:0003596 | Middle age onset | |
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| HP:0004943 | Accelerated atherosclerosis | |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0005181 | Premature coronary artery disease | |
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| HP:0006979 | Sleep-wake cycle disturbance | |
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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:0011970 | Cerebral amyloid angiopathy | "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520] |
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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:0012574 | Mesangial proliferation | "Increased numbers of mesangial cells per glomerulus." [Eurenomics:fschaefer] |
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| HP:0100721 | Mediastinal lymphadenopathy | |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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