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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 3
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Accession:DOID:0070223 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)
Synonyms:exact_synonym: ABCB4-related intrahepatic cholestasis;   Low gamma-GT Familial Intrahepatic Cholestasis;   MDR3 Deficiency;   PFIC3;   progressive familial intrahepatic cholestasis 3 (PFIC 3);   progressive familial intrahepatic cholestasis 3 (PFIC3);   progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase;   progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
 primary_id: MESH:C535935
 alt_id: OMIM:602347
 xref: GARD:1289;   ORDO:79305
For additional species annotation, visit the Alliance of Genome Resources.



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progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 ClinVar PMID:16641580 PMID:18395098 PMID:22364601 PMID:25741868 PMID:27114171 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by OMIM:602347
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
OMIM
ClinVar
CTD
PMID:8666348 PMID:9419367 PMID:9923886 PMID:11313316 PMID:12891548 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          progressive familial intrahepatic cholestasis 7
            progressive familial intrahepatic cholestasis 3 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        hepatobiliary disease 2577
          biliary tract disease 465
            bile duct disease 431
              cholestasis 319
                intrahepatic cholestasis 125
                  progressive familial intrahepatic cholestasis 7
                    progressive familial intrahepatic cholestasis 3 2
paths to the root