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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 subfamily B member 11 JBrowse link 3 55,480,024 55,587,946 RGD:7240710
RGD:8554872
RGD:14688048
RGD:14402418
G Atp8b1 ATPase phospholipid transporting 8B1 JBrowse link 18 60,013,388 60,152,920 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 2 2
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
                  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.