Preferred Name

progressive familial intrahepatic cholestasis

Synonyms

PFIC

cholestasis, progressive familial intrahepatic

Definitions

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

ID

http://purl.obolibrary.org/obo/MONDO_0015762

has_exact_synonym

PFIC

cholestasis, progressive familial intrahepatic

label

progressive familial intrahepatic cholestasis

prefixIRI

MONDO:0015762

prefLabel

progressive familial intrahepatic cholestasis

textual definition

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017755

http://purl.obolibrary.org/obo/MONDO_0017290

http://purl.obolibrary.org/obo/MONDO_0002254

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