Human genes for progressive familial intrahepatic cholestasis 5
Progressive familial intrahepatic cholestasis 5 [DOID:0070225]
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.
Synonyms: progressive familial intrahepatic cholestasis 5, DOID:0070225, progressive hereditary intrahepatic cholestasis 5, NR1H4 deficiency, PFIC5