- Disease, single-gene
- An hereditary disorder caused by a change (mutation) in a single gene. There are thousands of single-gene diseases including achondroplasia, Huntington disease, cystic fibrosis, sickle cell disease, Duchenne muscular dystrophy, and hemophilia. Single-gene diseases in families typically describe classic simple Mendelian patterns of inheritance (as an autosomal dominant, an autosomal recessive, or an X-linked trait). By comparison, polygenic diseases (genetic disorders caused by a combination of two or more genes) tend to have a more complex and varied expression.
Medical dictionary. 2011.
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Single-gene disease — An hereditary disorder caused by a change (mutation) in a single gene. There are thousands of single gene diseases including achondroplasia, Huntington disease, cystic fibrosis, sickle cell disease, Duchenne muscular dystrophy, and hemophilia.… … Medical dictionary
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