OnlineIMD
Bile salt export pump deficiency
(PFIC2)
Synonym(s)
Progressive familial intrahepatic cholestasis type 2
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ABCB11
/ ATP Binding Cassette Subfamily B Member 11
2q31.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Bile salt export pump
Parent entry
Phosphatidylserine translocator deficiency