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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 3 55,480,024 55,587,946 RGD:11554173
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link 4 22,133,984 22,192,687 RGD:11554173
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link 18 60,013,388 60,152,920 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 1 3
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      gastrointestinal system disease 4395
        hepatobiliary disease 2417
          biliary tract disease 414
            bile duct disease 384
              cholestasis 293
                intrahepatic cholestasis 112
                  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.