ONTOLOGY REPORT - ANNOTATIONS


Term:benign recurrent intrahepatic cholestasis 1
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Accession:DOID:0070231 term browser browse the term
Definition:A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)
Synonyms:exact_synonym: BRIC type 1;   BRIC1;   Summerskill syndrome
 primary_id: OMIM:243300
 xref: GARD:10028;   ORDO:99960
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benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link 18 60,013,388 60,152,920 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        liver disease 2270
          intrahepatic cholestasis 96
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 1 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        hepatobiliary disease 2359
          biliary tract disease 378
            bile duct disease 347
              cholestasis 264
                intrahepatic cholestasis 96
                  benign recurrent intrahepatic cholestasis 2
                    benign recurrent intrahepatic cholestasis 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.