| 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:0000027 | Azoospermia | |
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| HP:0000789 | Infertility | |
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| HP:0000798 | Oligospermia | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000855 | Insulin resistance | |
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| HP:0001249 | Mental retardation | |
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| HP:0001397 | Hepatic steatosis | |
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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:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001658 | Myocardial infarction | |
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| HP:0002155 | Hypertriglyceridemia | |
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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:0005181 | Premature coronary artery disease | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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