cholestasis, progressive familial intrahepatic, 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0014884


Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4310747 (NCBI:mim2gene_medline)
  • Orphanet:480476 (UMLS:CN776839)
  • DOID:0070225 (MONDO:equivalentTo)
  • UMLS:CN776839 (MONDO:equivalentTo)
  • OMIM:617049 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
PFIC5 [ MONDOLEX:0014884 Orphanet:480476 https://omim.org/entry/617049 ]

conformsTo

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

definition

Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0070225

http://linkedlifedata.com/resource/umls/id/CN776839

http://identifiers.org/omim/617049

http://linkedlifedata.com/resource/umls/id/C4310747

http://www.orpha.net/ORDO/Orphanet_480476

has alternative id

MONDO:0018802

has exact synonym

NR1H4 deficiency

cholestasis, progressive familial intrahepatic, 5

NR1H4 progressive familial intrahepatic cholestasis

cholestasis, progressive familial intrahepatic, type 5

cholestasis, progressive familial intrahepatic, 5; PFIC5

progressive familial intrahepatic cholestasis caused by mutation in NR1H4

PFIC5

id

MONDO:0014884