Definition

A term used to describe different genetic mechanisms that produce the same or similar phenotypes. There are two types of genetic heterogeneity: allelic heterogeneity and locus heterogeneity. Allelic heterogeneity occurs when different variants at a single gene locus cause the same or similar phenotypic expressions of a disease or condition. Locus heterogeneity occurs when variants at different gene loci cause the same or similar phenotypic expressions of a disease or condition.