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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
 primary_id: OMIM:605479
 alt_id: RDO:0001304
 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 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        liver disease 2315
          intrahepatic cholestasis 109
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      gastrointestinal system disease 4373
        hepatobiliary disease 2402
          biliary tract disease 400
            bile duct disease 370
              cholestasis 279
                intrahepatic cholestasis 109
                  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.