Monogenic Disorder (Noun)
Meaning
An inherited disease controlled by a single pair of genes.
Classification
Nouns denoting natural processes.
Examples
- Huntington's disease is a monogenic disorder caused by an expansion of a CAG repeat in the Huntingtin gene.
- Cystic fibrosis is a monogenic disorder that affects the respiratory, digestive, and reproductive systems.
- Sickle cell anemia is a monogenic disorder resulting from a point mutation in the HBB gene that codes for hemoglobin.
- The disorder known as achondroplasia is a monogenic disorder that affects bone growth and is the most common cause of short-limbed dwarfism.
- Familial hypercholesterolemia is a monogenic disorder characterized by extremely high levels of low-density lipoprotein cholesterol.
Synonyms
Hypernyms
- Inherited Disorder
- Hereditary Disease
- Inherited Disease
- Genetic Abnormality
- Genetic Defect
- Congenital Disease
- Hereditary Condition
- Genetic Disorder
Hyponyms
- Mucoviscidosis
- Pancreatic Fibrosis
- Dysostosis Multiplex
- Hurler's Disease
- Lipochondrodystrophy
- Drepanocytic Anaemia
- Thalassaemia
- Severe Combined Immunodeficiency Disease
- Sickle-cell Anaemia
- Sickle-cell Disease
- Crescent-cell Anemia
- Von Recklinghausen's Disease
- Infantile Amaurotic Idiocy
- Drepanocytic Anemia
- Tay-Sachs
- Mediterranean Anemia
- Mediterranean Anaemia
- Huntington's Disease
- Gargoylism
- SCID
- Sachs Disease
- Fibrocystic Disease Of The Pancreas
- Crescent-cell Anaemia
- CF