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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:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. (DO)
Synonyms:exact_synonym: NR1H4 deficiency;   PFIC5
 primary_id: OMIM:617049
 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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          progressive familial intrahepatic cholestasis 7
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      gastrointestinal system disease 6080
        hepatobiliary disease 2577
          biliary tract disease 466
            bile duct disease 431
              cholestasis 319
                intrahepatic cholestasis 125
                  progressive familial intrahepatic cholestasis 7
                    progressive familial intrahepatic cholestasis 5 1
paths to the root