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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: Byler disease;   PFIC
 xref: MIM:PS211600;   MONDO:0015762;   NCI:C84453;   ORDO:172


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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:12717091 PMID:15300568 More... 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: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:11313316 PMID:12891548 PMID:15077010 PMID:16199547 PMID:16890614 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: Byler disease | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis ClinVar PMID:8213816 PMID:16941474 PMID:17309651 PMID:21520340 PMID:23337983 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		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: Byler disease		 CTD
ClinVar		 PMID:12891548 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 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: Byler disease | ClinVar Annotator: match by term: Byler's disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9536098 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: Byler disease ClinVar PMID:11030617 PMID:21633855 PMID:26888176 PMID:28492532 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 OMIM
ClinVar		 PMID:18724368 PMID:20186687 PMID:25741868 PMID:27532546 PMID:28027573 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 OMIM
ClinVar		 PMID:34585848 NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 OMIM
ClinVar		 PMID:18853461 PMID:25741868 PMID:31479177 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		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: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
DNA:mutation:cds:p.D482G(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 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 type 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: MDR3 deficiency ClinVar PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More... 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: ABCB4-Related Intrahepatic Cholestasis | ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 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: Cholestasis, progressive familial intrahepatic, 4 OMIM
ClinVar		 PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:26467025 More... NCBI chr 1:221,709,745...221,838,291
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 PMID:28492532 PMID:32124521 PMID:32759993 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 Annotator: match by term: NR1H4-related condition OMIM
ClinVar		 PMID:11030617 PMID:17681172 PMID:21633855 PMID:24806754 PMID:25741868 More... 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 member A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar		 PMID:25741868 PMID:31863603 NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30250217 More... NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif12 kinesin family member 12 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 OMIM
ClinVar		 PMID:25741868 PMID:30250217 PMID:30976738 PMID:34555379 NCBI chr 5:76,596,204...76,603,261
Ensembl chr 5:76,596,208...76,602,843 		JBrowse link
Progressive Familial Intrahepatic Cholestasis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 OMIM
ClinVar		 PMID:25741868 PMID:32737136 PMID:33853651 NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          progressive familial intrahepatic cholestasis 13
            Progressive Familial Intrahepatic Cholestasis 10 1
            Progressive Familial Intrahepatic Cholestasis 11 1
            Progressive Familial Intrahepatic Cholestasis 12 1
            Progressive Familial Intrahepatic Cholestasis 6 1
            Progressive Familial Intrahepatic Cholestasis 7 1
            Progressive Familial Intrahepatic Cholestasis 8 1
            Progressive Familial Intrahepatic Cholestasis 9 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 19065
    disease of anatomical entity 18355
      gastrointestinal system disease 7154
        hepatobiliary disease 3090
          biliary tract disease 538
            bile duct disease 494
              cholestasis 341
                intrahepatic cholestasis 143
                  progressive familial intrahepatic cholestasis 13
                    Progressive Familial Intrahepatic Cholestasis 10 1
                    Progressive Familial Intrahepatic Cholestasis 11 1
                    Progressive Familial Intrahepatic Cholestasis 12 1
                    Progressive Familial Intrahepatic Cholestasis 6 1
                    Progressive Familial Intrahepatic Cholestasis 7 1
                    Progressive Familial Intrahepatic Cholestasis 8 1
                    Progressive Familial Intrahepatic Cholestasis 9 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