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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial intrahepatic cholestasis 1
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Accession:DOID:0070226 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: Byler disease;   Byler's disease;   FIC1 deficiency;   PFIC1;   fatal intrahepatic cholestasis;   progressive familial intrahepatic cholestasis;   progressive familial intrahepatic cholestasis type 1 (PFIC 1);   progressive familial intrahepatic cholestasis type 1 (PFIC1)
 primary_id: MESH:C535933
 alt_id: OMIM:211600;   RDO:0001306
 xref: GARD:9802;   ORDO:79306
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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 36 13,742,895 13,835,312 RGD:9068941
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 14 13,542,610 13,614,334 RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 1 18,156,664 18,279,131 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12015
    Developmental Diseases 8275
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7089
        genetic disease 6609
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 1 3
Path 2
Term Annotations click to browse term
  disease 12015
    disease of anatomical entity 11666
      gastrointestinal system disease 3828
        hepatobiliary disease 2256
          biliary tract disease 379
            bile duct disease 350
              cholestasis 269
                intrahepatic cholestasis 108
                  progressive familial intrahepatic cholestasis 5
                    progressive familial intrahepatic cholestasis 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.