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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 9
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Accession:DOID:9002381 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the ZFYVE19 gene on chromosome 15q15.
Synonyms:exact_synonym: PFIC9
 primary_id: OMIM:619849


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Progressive Familial Intrahepatic Cholestasis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 OMIM
ClinVar		 PMID:25741909 PMID:32737136 PMID:33853651 NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          progressive familial intrahepatic cholestasis 12
            Progressive Familial Intrahepatic Cholestasis 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          biliary tract disease 541
            bile duct disease 497
              cholestasis 343
                intrahepatic cholestasis 139
                  progressive familial intrahepatic cholestasis 12
                    Progressive Familial Intrahepatic Cholestasis 9 1
paths to the root