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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



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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: 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: Progressive familial intrahepatic cholestasis ClinVar PMID:5807632 PMID:9500542 PMID:9918928 PMID:14988830 PMID:15239083 More... 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: 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: Familial intrahepatic cholestasis type 2 | 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: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 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: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: Cholestasis, progressive familial intrahepatic, 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition
OMIM
CTD
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: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 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          progressive familial intrahepatic cholestasis 12
            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 21155
    disease of anatomical entity 18219
      gastrointestinal system disease 7035
        hepatobiliary disease 3042
          biliary tract disease 539
            bile duct disease 495
              cholestasis 341
                intrahepatic cholestasis 139
                  progressive familial intrahepatic cholestasis 12
                    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