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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial intrahepatic cholestasis 5
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Accession:DOID:0070225 term browser browse the term
Definition:An autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. (OMIM)
Synonyms:exact_synonym: NR1H4 deficiency;   PFIC5
 primary_id: OMIM:617049
 alt_id: RDO:9001265
 xref: ORDO:480476
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progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 JBrowse link 7 30,003,429 30,162,095 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      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 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.