Term Name: | progressive familial intrahepatic cholestasis 2 |
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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 ) |