3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency

(CBAS1)

Synonym(s)
- Congenital bile acid synthesis defect type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HSD3B7 / HSD3B7
  16p11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxysteroid dehydrogenase 3 beta 7
Parent entry
- Cholesterol 7-alpha-hydroxylase deficiency