Human genes for progressive familial intrahepatic cholestasis 2
Progressive familial intrahepatic cholestasis 2 [DOID:0070222]
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
Synonyms: progressive familial intrahepatic cholestasis 2, DOID:0070222, progressive hereditary intrahepatic cholestasis 2, BSEP deficiency, PFIC2 ...