"Haploinsufficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Below are MeSH descriptors whose meaning is more general than "Haploinsufficiency".
Below are MeSH descriptors whose meaning is more specific than "Haploinsufficiency".
This graph shows the total number of publications written about "Haploinsufficiency" by people in Harvard Catalyst Profiles by year, and whether "Haploinsufficiency" was a major or minor topic of these publication.