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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 ClinVar
OMIM
PMID:21633855, PMID:25741868, PMID:26888176 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    Developmental Diseases 9538
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8372
        genetic disease 7872
          progressive familial intrahepatic cholestasis 6
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 16042
    disease of anatomical entity 15294
      gastrointestinal system disease 4634
        hepatobiliary disease 2503
          biliary tract disease 438
            bile duct disease 408
              cholestasis 313
                intrahepatic cholestasis 124
                  progressive familial intrahepatic cholestasis 6
                    progressive familial intrahepatic cholestasis 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.