Details of Disease

General Information of Disease (ID: DIS2T2XO)

• Disease Name: Inborn disorder of pyrimidine metabolism
• Synonyms: disorder of pyrimidine metabolism; inborn pyrimidine nucleobase metabolic process disorder; pyrimidine metabolic disorder; inborn error of pyrimidine nucleobase metabolic process; rare inborn error of pyrimidine nucleobase metabolic process
• Definition: ANPM
• Disease Hierarchy:
  DISZOJ6Y: Pyrimidine metabolism disease
  DISO5FAY: Inborn error of metabolism
  :
  DIS2T2XO: Inborn disorder of pyrimidine metabolism
• Disease Identifiers:
  MONDO ID: MONDO_0019238
  UMLS CUI: C0268127
  MedGen ID: 541208
  Orphanet ID: 79193
  SNOMED CT ID: 85444005