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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 1
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Accession:DOID:0070231 term browser browse the term
Definition:A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)
Synonyms:exact_synonym: BRIC type 1;   BRIC1;   Summerskill syndrome
 primary_id: OMIM:243300
 xref: GARD:10028;   ORDO:99960
For additional species annotation, visit the Alliance of Genome Resources.



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benign recurrent intrahepatic cholestasis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8b1 ATPase phospholipid transporting 8B1 ISO DNA:missense mutation:cds:p.I661T (human)
ClinVar Annotator: match by term: Summerskill syndrome
OMIM
ClinVar
RGD
PMID:5807632 PMID:7894490 PMID:9500542 PMID:9918928 PMID:15239083 More... RGD:14401576 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      endocrine system disease 6295
        liver disease 2663
          intrahepatic cholestasis 134
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 1 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      gastrointestinal system disease 6620
        hepatobiliary disease 2773
          biliary tract disease 521
            bile duct disease 477
              cholestasis 329
                intrahepatic cholestasis 134
                  benign recurrent intrahepatic cholestasis 2
                    benign recurrent intrahepatic cholestasis 1 1
paths to the root