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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 chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946 		JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354 		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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946 		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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515 		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 PMID:11093741 PMID:12149765 PMID:14976163 PMID:15239083 PMID:15317749 PMID:15657619 PMID:15888793 PMID:16374853 PMID:18937870 PMID:19731236 PMID:19918981 PMID:20232290 PMID:20852622 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:26594346 PMID:26756876 PMID:26879107 PMID:28045770 PMID:28492532 PMID:33223529 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354 		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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056 		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		 PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:14672610 PMID:14999697 PMID:15077010 PMID:15300568 PMID:15791618 PMID:16039748 PMID:16763017 PMID:16871584 PMID:17452236 PMID:17855769 PMID:18395098 PMID:18692205 PMID:18798335 PMID:19101985 PMID:19571440 PMID:20010382 PMID:20232290 PMID:20583290 PMID:20799350 PMID:22795478 PMID:23022423 PMID:23279303 PMID:23684896 PMID:23750872 PMID:24115678 PMID:24231640 PMID:24402531 PMID:24627769 PMID:24969679 PMID:24991443 PMID:25741868 PMID:25847299 PMID:26019043 PMID:26678486 PMID:27050426 PMID:27153395 PMID:27368585 PMID:28492532 PMID:31319225 PMID:32581362 PMID:32860008, PMID:23758865, PMID:20447715 RGD:14688048, RGD:14402418 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946 		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 chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354 		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 chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946 		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 PMID:14999697 PMID:15077010 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20849526 PMID:21119540 PMID:22184139 PMID:22331132 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24806754 PMID:24914347 PMID:25741868 PMID:25807286 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26900700 PMID:28492532 PMID:28552422 PMID:28776642 PMID:31319225 PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515 		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 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484 		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 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379 		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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          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 16092
    disease of anatomical entity 15341
      gastrointestinal system disease 4651
        hepatobiliary disease 2507
          biliary tract disease 440
            bile duct disease 410
              cholestasis 315
                intrahepatic cholestasis 123
                  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