Preferred Label : haploinsufficiency;
MeSH definition : 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.;
MeSH synonym : haploinsufficiencies;
Wikipedia link : https://en.wikipedia.org/wiki/Haploinsufficiency;
Origin ID : D057895;
UMLS CUI : C2936267;
Allowable qualifiers
- Record concept(s)
- Semantic type(s)
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.
