Term Name:	progressive familial intrahepatic cholestasis 5
Synonyms:	NR1H4 deficiency, PFIC5
Definition:	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.
Ontology:	Human Disease [DOID:0070225]   ( DOID:0070225 )