Genetic heterogeneity

{
  "id": "MLC-T-ONC-003486",
  "term": "Genetic heterogeneity",
  "field": "Oncology and biomedicine",
  "definitions": [
    "A term that describes when different gene mutations (changes) cause the same disease or condition. Genetic heterogeneity occurs when a single gene has different mutations (allelic heterogeneity) or when there are mutations in different genes (locus heterogeneity), and in both cases the same disease or condition occurs. For example, tuberous sclerosis (an inherited disorder in which tumors form in the kidneys, brain, eyes, heart, lungs, and skin) is caused by having mutations in a gene on chromosome 9 or chromosome 16.",
    "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."
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/genetic-heterogeneity/"
}