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progressive familial intrahepatic cholestasis

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

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. [ Orphanet:172 ]

Term info

database cross reference
  • NCIT:C84453 (MONDO:equivalentTo)
  • DOID:0070221 (MONDO:equivalentTo)
  • Orphanet:172 (MONDO:equivalentTo)
  • OMIMPS:211600 (MONDO:equivalentTo)
  • UMLS:C0268312 (Orphanet:172/e)
Subsets

ordo_disease

abbreviation
PFIC [ Orphanet:172 ]

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.

exactMatch

https://omim.org/phenotypicSeries/PS211600, http://purl.obolibrary.org/obo/Orphanet_172, http://linkedlifedata.com/resource/umls/id/C0268312, http://purl.obolibrary.org/obo/NCIT_C84453, http://purl.obolibrary.org/obo/DOID_0070221

has exact synonym

PFIC, cholestasis, progressive familial intrahepatic

id

MONDO:0015762