OnlineIMD
3-beta-hydroxysteroid dehydrogenase deficiency
Synonym(s)
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HSD3B2
/ Hydroxysteroid 3-beta-dehydrogenase 2
1p12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
3β-hydroxysteroid dehydrogenase type 2
Disease group(s)
24.2 Disorders of steroid metabolism