Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

progressive familial intrahepatic cholestasis

Synonyms

PFIC; Byler disease

Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0070221

database_cross_reference

SNOMEDCT_US_2023_03_01:74162007

OMIM:PS211600

UMLS_CUI:C0268312

NCI:C84453

ORDO:172

has exact synonym

PFIC; Byler disease

has_obo_namespace

disease_ontology

id

DOID:0070221

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

progressive familial intrahepatic cholestasis

notation

DOID:0070221

prefLabel

progressive familial intrahepatic cholestasis

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_1852

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