Details of Disease

General Information of Disease (ID: DISQZI8H)

• Disease Name: Inborn disorder of purine metabolism
• Synonyms: disorder of purine metabolism; inborn error of purine nucleobase metabolic process; inborn purine nucleobase metabolic process disorder; rare inborn error of purine nucleobase metabolic process
• Definition: An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DIS4B865: Purine metabolism disease
  :
  DISQZI8H: Inborn disorder of purine metabolism