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Haploinsufficiency MeSH Descriptor Data 2022


MeSH Heading
Haploinsufficiency
Tree Number(s)
G05.365.590.029.530.587
G05.380.350.500
Unique ID
D057895
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D057895
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.
Previous Indexing
Haplotypes (1994-2010)
Heterozygote (1996-2010)
Loss of Heterozygosity (1994-2010)
Mutation (1994-2010)
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Haploinsufficiency Preferred
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