Cholestasis, progressive familial intrahepatic, 5

Definition

Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.

Also known as cholestasis, progressive familial intrahepatic, 5, cholestasis, progressive familial intrahepatic, 5; PFIC5, cholestasis, progressive familial intrahepatic, type 5, NR1H4 deficiency, NR1H4 progressive familial intrahepatic cholestasis, PFIC5, progressive familial intrahepatic cholestasis caused by mutation in NR1H4 — per MONDO

Also identified as

• DOID 0070225 per MONDO
• OMIM 617049 per MONDO
• Orphanet 480476 per MONDO
• UMLS C4310747 per MONDO