Written by the Fiveable Content Team • Last updated September 2025
Verified for the 2026 exam
Verified for the 2026 exam•Written by the Fiveable Content Team • Last updated September 2025
Definition
Genetic disorders are diseases that are caused by abnormalities in an individual's genome. These abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome.
Related terms
Monogenic Disorders: These are caused by mutations in a single gene and often give rise to conditions such as cystic fibrosis and sickle cell disease.
Chromosomal Disorders: These occur when there are missing or extra copies of chromosomes, leading to conditions like Down syndrome.
Multifactorial Inheritance Disorder: This type involves combinations of multiple gene mutations and environmental factors, resulting in conditions like heart disease and diabetes.