Definition: A hereditary disorder caused by a mutant allele of a single gene (e.g., Duchenne muscular dystrophy, retinoblastoma, sickle cell disease). (In contrast, polygenic disorders result from the combined action of alleles of more than one gene and depend on the simultaneous presence of several alleles).
Source: Genetic and Rare Diseases (GARD) Information Center
Synonyms:
  • Monogenic disorder