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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 15 75,402,296 75,487,092 RGD:9068941
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 9 93,171,371 93,262,124 RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 1 162,936,209 163,063,040 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 15 75,402,296 75,487,092 RGD:7240710
RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 1 162,936,209 163,063,040 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 9 93,171,371 93,262,124 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 1 222,474,518 222,612,989 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 5 83,607,222 83,732,668 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11965
    Developmental Diseases 8223
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7039
        genetic disease 6562
          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 11965
    disease of anatomical entity 11620
      gastrointestinal system disease 3792
        hepatobiliary disease 2233
          biliary tract disease 374
            bile duct disease 343
              cholestasis 262
                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.