What is an inherited disease caused by a mutation in a gene or a chromosomal defect called?

An inherited disease caused by a mutation in a gene or a chromosomal defect is accurately referred to as a genetic disorder. This term encompasses a wide range of conditions that arise due to alterations in the genetic material, which can be passed from parents to offspring. Genetic disorders can result from single gene mutations, chromosomal abnormalities, or complex interactions involving multiple genes and environmental factors.

The other terms, while related to genetics, do not specifically capture the essence of inherited diseases as effectively. Somatic mutations refer to changes in genes that occur after conception in non-reproductive cells and are not inherited. Gametic anomalies pertain to irregularities in the germ cells (sperm and eggs), but do not specifically denote inherited diseases. Congenital disorders are conditions that exist at birth but may not necessarily be inherited; they can also arise from environmental factors during pregnancy. Therefore, the term genetic disorder is both the most precise and appropriate designation for diseases that are inherited due to genetic mutations or chromosomal defects.