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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:primary biliary cholangitis 3
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Accession:DOID:0070360 term browser browse the term
Definition:A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. (DO)
Synonyms:exact_synonym: IL12RB2-RELATED CONDITION;   PBC3;   Primary Biliary Cirrhosis 3
 primary_id: MESH:C567816
 alt_id: DOID:9000199;   OMIM:613008


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primary biliary cholangitis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb2 interleukin 12 receptor, beta 2 ISO ClinVar Annotator: match by term: IL12RB2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:67,263,914...67,353,277
Ensembl chr 6:67,268,302...67,353,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      gastrointestinal system disease 6787
        autoimmune disease of gastrointestinal tract 273
          primary biliary cholangitis 102
            primary biliary cholangitis 3 1
Path 2
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      gastrointestinal system disease 6787
        hepatobiliary disease 3054
          biliary tract disease 547
            bile duct disease 502
              cholestasis 347
                intrahepatic cholestasis 139
                  primary biliary cholangitis 102
                    primary biliary cholangitis 3 1
paths to the root