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Genetic Phenomena > Genotype > Gene Dosage > Haploinsufficiency
... > Genetic Phenomena > Genetic Variation > Mutation > Allelic Imbalance > Loss of Heterozygosity > Haploinsufficiency

Preferred term

Haploinsufficiency  

Type

  • Topical Descriptor

Broader concept

Scope note

  • A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

History note

  • 2011

In other languages

URI

http://www.yso.fi/onto/mesh/D057895

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