Details of Disease

General Information of Disease (ID: DIS179YA)

• Disease Name: Inborn disorder of proline metabolism
• Synonyms: rare inborn error of proline metabolic process; disorder of proline metabolism; inborn error of proline metabolic process; inborn proline metabolic process disorder
• Definition: An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.
• Disease Hierarchy:
  DISFWXCM: Inborn disorder of amino acid metabolism
  DISO5FAY: Inborn error of metabolism
  DISDTQA4: Inborn disorder of ornithine or proline metabolism
  DISTVTFI: Disorder of organic acid metabolism
  DIS179YA: Inborn disorder of proline metabolism
• Disease Identifiers:
  MONDO ID: MONDO_0017355
  UMLS CUI: C5681004
  MedGen ID: 1842611
  Orphanet ID: 289866