progressive familial intrahepatic cholestasis type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0011156


Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. [ Orphanet:79304 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:K76.8 (Orphanet:79304)
  • Orphanet:79304 (OMIM:601847)
  • OMIM:601847 (Orphanet:79304)
  • DOID:0070222 (MONDO:equivalentTo)
  • UMLS:CN205889 (MONDO:equivalentTo)
  • GARD:0001288 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
PFIC2 [ MONDO:Lexical Orphanet:79304 https://omim.org/entry/601847 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C3489789

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.

exactMatch

http://purl.obolibrary.org/obo/DOID_0070222

http://identifiers.org/omim/601847

http://www.orpha.net/ORDO/Orphanet_79304

http://linkedlifedata.com/resource/umls/id/CN205889

http://linkedlifedata.com/resource/umls/id/C1866138

has exact synonym

ABCB11 progressive familial intrahepatic cholestasis

cholestasis, progressive familial intrahepatic, type 2

progressive familial intrahepatic cholestasis caused by mutation in ABCB11

PFIC2

BSEP deficiency

has related synonym

cholestasis, progressive familial intrahepatic, 2

severe ABCB11 deficiency

id

MONDO:0011156

seeAlso

https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2