progressive familial intrahepatic cholestasis

Term ID

DOID:0070221

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: intrahepatic cholestasis

intrahepatic cholestasis Show first 5 Terms
has subtype: progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis 2 progressive familial intrahepatic cholestasis 3 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis 5

progressive familial intrahepatic cholestasis 1 progressive familial intrahepatic cholestasis 2 progressive familial intrahepatic cholestasis 3 progressive familial intrahepatic cholestasis 4 progressive familial intrahepatic cholestasis 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations