progressive familial intrahepatic cholestasis 5 (DOID:0070225)
Alliance: disease page
Synonyms: NR1H4 deficiency; PFIC5
Alt IDs: OMIM:617049, ORDO:480476
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.