genetic disorder
Học thuậtThân thiện
Definition
Noun: A disease or medical condition caused by an abnormality in an individual's DNA (genome). These disorders are inherited from one or both parents or can occur due to new mutations in the genetic material.
Usage
The term "genetic disorder" is used to classify medical conditions with a primary genetic cause. It is a formal term common in medical, scientific, and general educational contexts. - It is typically used as a countable noun (e.g., a genetic disorder, several genetic disorders). - It describes conditions present from birth (congenital) or that may manifest later in life.
Examples
- Cystic fibrosis is a well-known genetic disorder that primarily affects the lungs and digestive system.
- The couple sought genetic counseling because there was a history of a rare genetic disorder in the family.
- Advances in genomics have improved the diagnosis of many genetic disorders.
Advanced Usage
- Complex/Multifactorial Genetic Disorders: Conditions caused by a combination of genetic variations and environmental factors (e.g., heart disease, diabetes). While "genetic disorder" can encompass these, they are often specified as "complex disorders."
- Monogenic/Mendelian Disorder: A more specific term for a disorder caused by a mutation in a single gene, which is a subtype of genetic disorder (e.g., Huntington's disease, sickle cell anemia).
Variants and Related Words
- Genetic disease: Often used interchangeably with "genetic disorder."
- Inherited disorder: Emphasizes the condition's heritability from parents.
- Hereditary condition: Similar to "inherited disorder," highlighting familial transmission.
- Chromosomal disorder: A specific type of genetic disorder caused by abnormalities in chromosome number or structure (e.g., Down syndrome).
- Genomic disorder: A modern term often referring to disorders caused by large-scale DNA alterations.
Synonyms
- Hereditary disease
- Inherited disease
- Genetic condition
- Genetic defect (this term can be considered less sensitive)
Antonyms
- Acquired disease: A medical condition caused by factors acting after birth, such as infection, injury, or environmental exposure, and not inherited (e.g., scurvy from vitamin C deficiency, most cancers from somatic mutations).
- Non-genetic disorder
Related Phrases and Collocations
- To have/inherit a genetic disorder
- To be born with a genetic disorder
- To screen for/test for a genetic disorder
- To treat/manage a genetic disorder
- The cause/origin of a genetic disorder
- A rare/common genetic disorder
Noun
- a disease or disorder that is inherited genetically