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progressive familial intrahepatic cholestasis type 1

^ http://purl.obolibrary.org/obo/MONDO_0008892

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. [ Orphanet:79306 ]

Term info

database cross reference
  • OMIM:211600 (Orphanet:79306/e)
  • DOID:0070226 (MONDO:equivalentTo)
  • Orphanet:79306 (OMIM:211600)
  • UMLS:CN205891 (MONDO:equivalentTo)
  • GARD:0009802 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
PFIC1 [ Orphanet:79306 OMIM:211600 GARD:0009802 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.

exactMatch

https://omim.org/entry/211600, http://purl.obolibrary.org/obo/DOID_0070226, http://purl.obolibrary.org/obo/Orphanet_79306, http://linkedlifedata.com/resource/umls/id/CN205891

has exact synonym

FIC1 deficiency, cholestasis, progressive familial intrahepatic 1, cholestasis, progressive familial intrahepatic, type 1, PFIC1, Byler disease

has related synonym

cholestasis, fatal intrahepatic, severe ATP8B1 deficiency, cholestasis, progressive familial intrahepatic, 1, Byler's disease, progressive familial intrahepatic cholestasis

id

MONDO:0008892

Term relations