Visualize
Submit Comment
Metadata
ID
SO:0002054
Name
loss_of_function_variant
Parent Relationships
is_a
functionally_abnormal
Related Diseases
null
Prader-Willi syndrome
alpha 1-antitrypsin deficiency
tuberous sclerosis
cystic fibrosis
Angelman syndrome
has material basis in
immunodeficiency 95
Bainbridge-Ropers syndrome
Sandestig-Stefanova syndrome
Angelman syndrome
Add an item to the term tracker