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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 2B 173,664,518 173,776,233 RGD:9068941
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 7 93,046,085 93,119,439 RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 54,370,844 54,522,158 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 2B 173,664,518 173,776,233 RGD:7240710
RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 54,370,844 54,522,158 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 7 93,046,085 93,119,439 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 9 67,865,958 68,020,569 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 12 101,457,885 101,548,058 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11857
    Developmental Diseases 8181
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7002
        genetic disease 6524
          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 11857
    disease of anatomical entity 11510
      gastrointestinal system disease 3675
        hepatobiliary disease 2127
          biliary tract disease 367
            bile duct disease 337
              cholestasis 253
                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.