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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 6
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Accession:DOID:9002471 term browser browse the term
Definition:An autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea. Caused by homozygous mutation in the SLC51A gene on chromosome 3q29. (OMIM)
Synonyms:exact_synonym: PFIC6
 primary_id: OMIM:619484


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Progressive Familial Intrahepatic Cholestasis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC51A solute carrier family 51 member A ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 OMIM
ClinVar		 PMID:25741868 PMID:31863603 NCBI chr13:133,851,775...133,869,753
Ensembl chr13:133,851,776...133,869,753 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          progressive familial intrahepatic cholestasis 12
            Progressive Familial Intrahepatic Cholestasis 6 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      gastrointestinal system disease 6423
        hepatobiliary disease 2862
          biliary tract disease 511
            bile duct disease 467
              cholestasis 327
                intrahepatic cholestasis 137
                  progressive familial intrahepatic cholestasis 12
                    Progressive Familial Intrahepatic Cholestasis 6 1
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