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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:benign recurrent intrahepatic cholestasis 2
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Accession:DOID:0070232 term browser browse the term
Definition:A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BRIC type 2;   BRIC2;   benign recurrent intrahepatic cholestasis 2 (BRIC2);   benign recurrent intrahepatic cholestasis type 2
 primary_id: OMIM:605479
 xref: GARD:10029;   ORDO:99961
For additional species annotation, visit the Alliance of Genome Resources.


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benign recurrent intrahepatic cholestasis 2 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: Benign recurrent intrahepatic cholestasis type 2 OMIM
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:19101985 PMID:20583290 PMID:24231640 PMID:24402531 PMID:24991443 PMID:25741868 PMID:27050426 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      endocrine system disease 5009
        liver disease 2419
          intrahepatic cholestasis 124
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      gastrointestinal system disease 4643
        hepatobiliary disease 2511
          biliary tract disease 440
            bile duct disease 410
              cholestasis 315
                intrahepatic cholestasis 124
                  benign recurrent intrahepatic cholestasis 2
                    benign recurrent intrahepatic cholestasis 2 1
paths to the root