Delta-4-3-oxosteroid 5-beta-reductase deficiency

(CBAS2)

Synonym(s)
- Congenital bile acid synthesis defect type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AKR1D1 / Aldo-Keto Reductase Family 1 Member D1
  7q33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aldo-keto reductase family 1 member D1
Parent entry
- Cholesterol 7-alpha-hydroxylase deficiency