OnlineIMD
Microsomal epoxide hydrolase deficiency
Synonym(s)
Familial hypercholanemia
Type
Disease
External link(s)
IEMbase
Gene
EPHX1
/ Epoxide Hydrolase 1
1q42.12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Microsomal epoxide hydrolase
Disease group(s)
21.11 Other disorders of vitamin metabolism