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Progressive Familial Intrahepatic Cholestasis Type 2

Prevalence: 1/100000
hepatic
Official·OMIM:601847Official·ORPHA284403

Bile salt export pump defect due to ABCB11 gene mutations.

Associated Genes

ABCB11ATP Binding Cassette Subfamily B Member 11
Chromosome 2Autosomal Recessive