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Descriptor English: Haploinsufficiency
Descriptor Spanish: Haploinsuficiencia
Descriptor haploinsuficiencia
Scope note: Variación del número de copias que implica una reducción de la DOSIS DE GENES debido a cualquier mutación de pérdida de la función. La pérdida de la heterocigosidad se asocia a fenotipos anormales o estados patológicos debido a que el gen restante es insuficiente.
Descriptor Portuguese: Haploinsuficiência
Descriptor French: Haploinsuffisance
Entry term(s): Haploinsufficiencies
Tree number(s): G05.365.590.029.530.587
G05.380.350.500
RDF Unique Identifier: https://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.
Allowable Qualifiers: DE drug effects
GE genetics
IM immunology
PH physiology
RE radiation effects
Previous Indexing: Haplotypes (1994-2010)
Heterozygote (1996-2010)
Loss of Heterozygosity (1994-2010)
Mutation (1994-2010)
Public MeSH Note: 2011
History Note: 2011
DeCS ID: 54332
Unique ID: D057895
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Haploinsufficiency - Preferred
Concept UI M0539672
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.
Preferred term Haploinsufficiency
Entry term(s) Haploinsufficiencies



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