Disease association ontology term - MONDO:0011156 - progressive familial intrahepatic cholestasis type 2
Term summary
- ID
- MONDO:0011156
- Name
- progressive familial intrahepatic cholestasis type 2
- Ontology or CV name
- Disease association
- Definition
- Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
