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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial intrahepatic cholestasis 3
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Accession:DOID:0070223 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)
Synonyms:exact_synonym: Abcb4-Related Intrahepatic Cholestasis;   Low gamma-GT Familial Intrahepatic Cholestasis;   MDR3 Deficiency;   PFIC3;   Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3);   progressive familial intrahepatic cholestasis 3 (PFIC3);   progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase;   progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
 primary_id: MESH:C535935
 alt_id: OMIM:602347;   RDO:0001308
 xref: GARD:1289;   ORDO:79305
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 3 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      gastrointestinal system disease 4369
        hepatobiliary disease 2399
          biliary tract disease 399
            bile duct disease 369
              cholestasis 278
                intrahepatic cholestasis 109
                  progressive familial intrahepatic cholestasis 5
                    progressive familial intrahepatic cholestasis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.