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Single-gene diseases

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single-gene diseases

hereditary disorders caused by a change (mutation) in a single gene. There are thousands of single-gene diseases including achondroplastic dwarfism, huntington disease, cystic fibrosis, sickle cell disease, duchenne muscular dystrophy, and haemophilia. Single-gene diseases typically describe classic simple mendelian patterns of inheritance (as autosomal dominant, autosomal recessive, and x-linked traits) by comparison with polygenic diseases.