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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, sub-family B (MDR/TAP), member 11 JBrowse link 2 69,238,282 69,342,616 RGD:11554173
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 JBrowse link 5 8,893,614 8,959,226 RGD:11554173
G Atp8b1 ATPase, class I, type 8B, member 1 JBrowse link 18 64,528,979 64,661,272 RGD:7240710
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 JBrowse link 2 69,238,282 69,342,616 RGD:7240710
RGD:8554872
RGD:14688048
RGD:14402418
G Atp8b1 ATPase, class I, type 8B, member 1 JBrowse link 18 64,528,979 64,661,272 RGD:8554872
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 JBrowse link 5 8,893,614 8,959,226 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 19 24,094,502 24,225,128 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 10 89,454,234 89,533,645 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12522
    Developmental Diseases 8509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7276
        genetic disease 6789
          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 12522
    disease of anatomical entity 12141
      gastrointestinal system disease 4027
        hepatobiliary disease 2394
          biliary tract disease 402
            bile duct disease 371
              cholestasis 281
                intrahepatic cholestasis 106
                  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.