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_2023_03_01:74162007
  • UMLS_CUI:C0268312
Ontology: Human Disease   ( DOID:0070221 )
Relationships
is a type of:
has subtype:
OTHER progressive familial intrahepatic cholestasis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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