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ONTOLOGY REPORT - ANNOTATIONS


Term:benign recurrent intrahepatic cholestasis 2
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Accession:DOID:0070232 term browser browse the term
Definition:A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BRIC type 2;   BRIC2;   benign recurrent intrahepatic cholestasis 2 (BRIC2);   benign recurrent intrahepatic cholestasis type 2
 primary_id: OMIM:605479
 xref: GARD:10029;   ORDO:99961
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benign recurrent intrahepatic cholestasis 2 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      endocrine system disease 4933
        liver disease 2371
          intrahepatic cholestasis 119
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      gastrointestinal system disease 4592
        hepatobiliary disease 2462
          biliary tract disease 431
            bile duct disease 400
              cholestasis 306
                intrahepatic cholestasis 119
                  benign recurrent intrahepatic cholestasis 2
                    benign recurrent intrahepatic cholestasis 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.