Cholestasis, progressive familial intrahepatic, 4

Definition

Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.

Also known as cholestasis, progressive familial intrahepatic, 4, cholestasis, progressive familial intrahepatic, type 4, PFIC4, progressive familial intrahepatic cholestasis caused by mutation in TJP2, progressive familial intrahepatic cholestasis type 4, TJP2 deficit, TJP2 progressive familial intrahepatic cholestasis — per MONDO

Also identified as

• DOID 0070224 per MONDO
• OMIM 615878 per MONDO
• Orphanet 480483 per MONDO
• UMLS C2931067 per MONDO