|
1 / 1
|
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:
|
|
|
|
Record Number:
|
|
54332
|
|
Unique Identifier:
|
|
D057895
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|