single-gene disorder


single-gene disorder

Genetics A hereditary disorder caused by a mutant allele of a single gene–eg, cystic fibrosis, Duchenne muscular dystrophy, hemophilia, Huntington's disease, retinoblastoma, sickle cell disease; SGDs typically describe classic simple Mendelian patterns of inheritance–autosomal dominant, autosomal recessive, X-linked. See Gene, Mutation. Cf Polygenic disorder.