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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:progressive familial intrahepatic cholestasis
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Accession:DOID:0070221 term browser browse the term
Definition:An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)
Synonyms:exact_synonym: PFIC; Byler disease
 xref: NCI:C84453;   OMIM:PS211600;   ORDO:172
For additional species annotation, visit the Alliance of Genome Resources.

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progressive familial intrahepatic cholestasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 PMID:17855769 PMID:18395098 PMID:19101985 PMID:24991443 PMID:28492532 PMID:32581362 NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196 		JBrowse link
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1		 CTD
ClinVar		 PMID:12891548 PMID:17726488 PMID:18482588 PMID:19584064 PMID:21056966 PMID:23533021 PMID:25741868 PMID:25807286 PMID:26153658 PMID:26900700 PMID:32581362 NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855 PMID:26888176 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058 		JBrowse link
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)		 OMIM
RGD		 PMID:20447715 PMID:23758865 RGD:14402418 RGD:14688048 NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196 		JBrowse link
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 ClinVar PMID:16641580 PMID:18395098 PMID:22364601 PMID:27114171 NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439 		JBrowse link
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO OMIM NCBI chr 9:55,536,627...55,690,472 JBrowse link
G USP53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr 4:111,407,037...111,483,541
Ensembl chr 4:121,984,659...122,031,531 		JBrowse link
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO OMIM NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    Developmental Diseases 9074
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7918
        genetic disease 7481
          progressive familial intrahepatic cholestasis 6
            progressive familial intrahepatic cholestasis 1 4
            progressive familial intrahepatic cholestasis 2 2
            progressive familial intrahepatic cholestasis 3 2
            progressive familial intrahepatic cholestasis 4 2
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      gastrointestinal system disease 3985
        hepatobiliary disease 2220
          biliary tract disease 403
            bile duct disease 373
              cholestasis 284
                intrahepatic cholestasis 118
                  progressive familial intrahepatic cholestasis 6
                    progressive familial intrahepatic cholestasis 1 4
                    progressive familial intrahepatic cholestasis 2 2
                    progressive familial intrahepatic cholestasis 3 2
                    progressive familial intrahepatic cholestasis 4 2
                    progressive familial intrahepatic cholestasis 5 1
paths to the root