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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial intrahepatic cholestasis 2
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Accession:DOID:0070222 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BSEP deficiency;   PFIC2;   benign recurrent intrahepatic cholestasis 2;   benign recurrent intrahepatic cholestasis 2 (BRIC2)
 primary_id: MESH:C535934
 alt_id: OMIM:601847;   RDO:0001307
 xref: GARD:1288;   ORDO:79304
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progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 JBrowse link 2 69,238,282 69,342,616 RGD:7240710
RGD:8554872
RGD:14688048
RGD:14402418
G Atp8b1 ATPase, class I, type 8B, member 1 JBrowse link 18 64,528,979 64,661,272 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 12524
    Developmental Diseases 8528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7298
        genetic disease 6818
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 2 2
Path 2
Term Annotations click to browse term
  disease 12524
    disease of anatomical entity 12143
      gastrointestinal system disease 4030
        hepatobiliary disease 2398
          biliary tract disease 405
            bile duct disease 374
              cholestasis 284
                intrahepatic cholestasis 109
                  progressive familial intrahepatic cholestasis 5
                    progressive familial intrahepatic cholestasis 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.