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Metadata
ID DOID:0070221
Name progressive familial intrahepatic cholestasis
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.
https://www.ncbi.nlm.nih.gov/pubmed/15239083, https://www.ncbi.nlm.nih.gov/pubmed/8014759
Xrefs

NCI:C84453

OMIM:PS211600

ORDO:172

SNOMEDCT_US_2019_09_01:74162007

UMLS_CUI:C0268312

Synonyms

PFIC; Byler disease [EXACT]

Parent Relationships

is_a intrahepatic cholestasis

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