autosomal dominant disorder
Noun: A genetic condition or disease that is caused by a mutation in a gene located on an autosome (a non-sex chromosome) and that follows a dominant pattern of inheritance. This means only one copy of the mutated gene, inherited from one parent, is sufficient to cause the disorder.
This is a specialized medical and genetic term. It is used to classify and describe the inheritance pattern of specific genetic diseases. - It functions as a countable noun. - It is often used in scientific, clinical, and educational contexts.
- Noun:
- Huntington's disease is a well-known autosomal dominant disorder.
- The genetic counselor explained that the condition in their family was an autosomal dominant disorder.
- Diagnosing an autosomal dominant disorder often involves tracing the family medical history.
- The term is frequently used in contrast with , where two copies of the mutated gene are needed.
- In clinical reports: "The patient's presentation and family history are consistent with an autosomal dominant disorder."
- Autosomal dominant: The adjective form describing the inheritance pattern itself.
- Marfan syndrome is an autosomal dominant condition.
- AD disorder: A common abbreviation used in medical genetics.
- Autosomal recessive disorder: (Antonymic concept) A disorder requiring two copies of a mutated gene.
- Dominant genetic disorder (a broader term that could also refer to disorders on sex chromosomes).
- Monogenic disorder with autosomal dominant inheritance (a more precise, descriptive synonym).
This term specifically combines three key concepts: 1. Autosomal: The genetic mutation is not on the X or Y chromosome. 2. Dominant: A single mutated copy of the gene is enough to produce the disease. 3. Disorder: It refers to a disease, syndrome, or medical condition.
There are no specific idioms or phrasal verbs associated with this technical compound noun.
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a disease caused by a dominant mutant gene on an autosome
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