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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

  • Bainbridge-Ropers syndrome
  • Sandestig-Stefanova syndrome
  • Angelman syndrome
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