Disease or Syndrome
genetic disorder
ge·net·ic dis·or·der [ juh-net-ik dis-awr-der ]
Definitions related to hereditary diseases:
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(genetic disorder) General term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component.CRISP ThesaurusNational Institutes of Health, 2006
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(genetic disorder) Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.NCI ThesaurusU.S. National Cancer Institute, 2021
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(genetic disorders) Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.; Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.; Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of MedicineMedlinePlusU.S. National Library of Medicine, 2021
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Diseases caused by genetic mutations that are inherited from a parent's genome.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Genetic disorders are disorders caused by abnormalities in one or more genes or chromosomes. Some genetic disorders are hereditary and others are spontaneous. Hereditary genetic disorders are passed down from generation to generation.Merck & Co., Inc., 2020
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Human genetic disease, any of the diseases and disorders that are caused by mutations in one or more genes. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death...Encyclopedia Britannica, Inc., 2020
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