1 congenital Bile acid synthesis defect

Bile acid synthesis defect, congenital, 1; 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of; 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; Cholestasis, progressive familial intrahepatic 4; Congenital Bile Acid Synthesis Defect Type 1 (CBAS1); PFIC4 Progressive familial intrahepatic cholestasis type 4; Progressive familial intrahepatic cholestasis 4

• Digestive System Diseases: 1042
  • Biliary Tract Diseases: 466
    • Bile Duct Diseases: 95
      • Cholestasis: 7937
        • 1 congenital Bile acid synthesis defect
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
  • Inborn Genetic Diseases: 11939
    • Inborn Errors Metabolism: 1162
      • Inborn Errors Steroid Metabolism: 2
        • 1 congenital Bile acid synthesis defect
• Nutritional and Metabolic Diseases: 15
  • Metabolic Diseases: 10142
    • Inborn Errors Metabolism: 1162
      • Inborn Errors Steroid Metabolism: 2
        • 1 congenital Bile acid synthesis defect