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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 3 55,480,024 55,587,946 RGD:11554173
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link 4 22,133,984 22,192,687 RGD:11554173
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link 18 60,013,388 60,152,920 RGD:7240710
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 3 55,480,024 55,587,946 RGD:7240710
RGD:8554872
RGD:14688048
RGD:14402418
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link 18 60,013,388 60,152,920 RGD:8554872
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 4 22,133,984 22,192,687 RGD:7240710
RGD:8554872
RGD:11554173
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:7240710
RGD:8554872
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 7 30,003,429 30,162,095 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          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 14924
    disease of anatomical entity 14094
      gastrointestinal system disease 4283
        hepatobiliary disease 2375
          biliary tract disease 378
            bile duct disease 347
              cholestasis 263
                intrahepatic cholestasis 98
                  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.