OBO ID: DOID:0070221
Term Name: progressive familial intrahepatic cholestasis Search Ontology:
Synonyms:
  • PFIC; Byler disease
Definition: An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (2)
References:
  • NCI:C84453
  • OMIM:PS211600
  • ORDO:172
  • SNOMEDCT_US_2022_09_01:74162007
  • UMLS_CUI:C0268312
Ontology: Human Disease   (DOID:0070221)
OTHER progressive familial intrahepatic cholestasis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None