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ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:PS211600
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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 36 13,742,895 13,835,312 RGD:9068941
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 14 13,542,610 13,614,334 RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 1 18,156,664 18,279,131 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 36 13,742,895 13,835,312 RGD:7240710
RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 1 18,156,664 18,279,131 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 14 13,542,610 13,614,334 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 1 88,126,134 88,251,018 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 15 39,497,313 39,608,120 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12008
    Developmental Diseases 8250
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7060
        genetic disease 6575
          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 12008
    disease of anatomical entity 11658
      gastrointestinal system disease 3825
        hepatobiliary disease 2252
          biliary tract disease 376
            bile duct disease 347
              cholestasis 266
                intrahepatic cholestasis 105
                  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

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