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HAPLOINSUFFICIENCY
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DeCS
Descriptor
English
:
Haploinsufficiency
Descriptor
Spanish
:
Haploinsuficiencia
Descriptor
Portuguese
:
Haploinsuficiência
Synonyms
English
:
Haploinsufficiencies
Tree Number:
G05.365.590.029.530.587
G05.380.350.500
Definition
English
:
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
English
:
2011
Allowable Qualifiers
English
:
DE
drug effects
GE
genetics
IM
immunology
PH
physiology
RE
radiation effects
Record Number:
54332
Unique Identifier:
D057895
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS