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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 2 168,915,468 169,031,396 RGD:11554173
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 7 87,398,988 87,476,722 RGD:11554173
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 57,646,426 57,803,822 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 2 168,915,468 169,031,396 RGD:8554872
RGD:14688048
RGD:14402418
RGD:7240710
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 57,646,426 57,803,822 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 7 87,398,988 87,476,722 RGD:8554872
RGD:11554173
RGD:7240710
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TJP2 tight junction protein 2 JBrowse link 9 69,121,006 69,255,208 RGD:8554872
RGD:7240710
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 12 100,473,866 100,564,414 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16434
    Developmental Diseases 10218
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8352
        genetic disease 7799
          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 16434
    disease of anatomical entity 15409
      gastrointestinal system disease 4199
        hepatobiliary disease 2452
          biliary tract disease 406
            bile duct disease 374
              cholestasis 280
                intrahepatic cholestasis 110
                  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.