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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 ClinVar Annotator: match by term: Cholestasis, benign recurrent intrahepatic 1
DNA:missense mutation:cds:p.I661T (human)
ClinVar
OMIM
PMID:5807632, PMID:7894490, PMID:9500542, PMID:9918928, PMID:15239083, PMID:15888793, PMID:19731236, PMID:19918981, PMID:20981092, PMID:22995991, PMID:25741868, PMID:26879107, PMID:28492532, PMID:9918928 RGD:14401576 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          intrahepatic cholestasis 124
            benign recurrent intrahepatic cholestasis 2
              benign recurrent intrahepatic cholestasis 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 2505
          biliary tract disease 438
            bile duct disease 408
              cholestasis 313
                intrahepatic cholestasis 124
                  benign recurrent intrahepatic cholestasis 2
                    benign recurrent intrahepatic cholestasis 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.