Details of Disease

General Information of Disease (ID: DISTWFEZ)

• Disease Name: Congenital bile acid synthesis defect
• Synonyms: cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency; bile acid synthesis defect, congenital; CBA; BASD
• Disease Hierarchy:
  DISHIDRG: Steroid inherited metabolic disorder
  DISTWFEZ: Congenital bile acid synthesis defect
• Disease Identifiers:
  MONDO ID: MONDO_0018841
  UMLS CUI: C5680095
  MedGen ID: 1826069
  Orphanet ID: 485631