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Progressive familial intrahepatic cholestasis

Disease 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.

ORPHA:172

  • Synonym(s):
    • PFIC
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent
  • ICD-10: K76.8
  • OMIM: 211600  601847  602347  615878
  • UMLS: C0268312
  • MeSH: -
  • GARD: -
  • MedDRA: -

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