Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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 chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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:20422496 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
ClinVar Annotator: match by term: Byler disease
OMIM
ClinVar
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9918928 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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 chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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 ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis 2
ClinVar Annotator: match by OMIM:601847
OMIM
ClinVar
RGD
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 More... RGD:14688048, RGD:14402418 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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:25741868 PMID:27114171 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:602347
OMIM
ClinVar
CTD
PMID:8666348 PMID:9419367 PMID:9923886 PMID:11313316 PMID:12891548 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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 ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 4 OMIM
ClinVar
PMID:24614073 PMID:25741868 PMID:25921221 PMID:30311386 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
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 ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 ClinVar
OMIM
PMID:21633855 PMID:25741868 PMID:26888176 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
Progressive Familial Intrahepatic Cholestasis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc51a solute carrier family 51 subunit alpha ISO ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 OMIM
ClinVar
PMID:31863603 NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          progressive familial intrahepatic cholestasis 7
            Progressive Familial Intrahepatic Cholestasis 6 1
            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 17256
    disease of anatomical entity 16600
      gastrointestinal system disease 6067
        hepatobiliary disease 2567
          biliary tract disease 463
            bile duct disease 430
              cholestasis 318
                intrahepatic cholestasis 125
                  progressive familial intrahepatic cholestasis 7
                    Progressive Familial Intrahepatic Cholestasis 6 1
                    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