Search on: HAPLOINSUFFICIENCY 
Descriptors Found: 1
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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:
 
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