Term Name: progressive familial intrahepatic cholestasis 2
Synonyms: BSEP deficiency, PFIC2
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
Ontology: Human Disease [DOID:0070222]   ( DOID:0070222 )

Relationships
is a type of: autosomal recessive disease progressive familial intrahepatic cholestasis