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

ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:PS211600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP binding cassette subfamily B member 11 JBrowse link NW_004936469 10,521,576 10,599,005 RGD:9068941
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link NW_004936763 1,339,849 1,415,528 RGD:9068941
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link NW_004936497 6,652,240 6,712,960 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP binding cassette subfamily B member 11 JBrowse link NW_004936469 10,521,576 10,599,005 RGD:7240710
RGD:9068941
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link NW_004936497 6,652,240 6,712,960 RGD:9068941
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link NW_004936763 1,339,849 1,415,528 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tjp2 tight junction protein 2 JBrowse link NW_004936503 5,414,330 5,539,895 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1h4 nuclear receptor subfamily 1 group H member 4 JBrowse link NW_004936492 13,315,265 13,365,186 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11368
    Developmental Diseases 7881
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6792
        genetic disease 6332
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 1 3
            progressive familial intrahepatic cholestasis 2 2
            progressive familial intrahepatic cholestasis 3 1
            progressive familial intrahepatic cholestasis 4 1
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 11368
    disease of anatomical entity 11036
      gastrointestinal system disease 3565
        hepatobiliary disease 2055
          biliary tract disease 349
            bile duct disease 320
              cholestasis 240
                intrahepatic cholestasis 99
                  progressive familial intrahepatic cholestasis 5
                    progressive familial intrahepatic cholestasis 1 3
                    progressive familial intrahepatic cholestasis 2 2
                    progressive familial intrahepatic cholestasis 3 1
                    progressive familial intrahepatic cholestasis 4 1
                    progressive familial intrahepatic cholestasis 5 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.