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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:intrahepatic cholestasis of pregnancy 1
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Accession:DOID:0070228 term browser browse the term
Definition:An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: ICP1;   pregnancy related cholestasis 1
 primary_id: MIM:147480


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intrahepatic cholestasis of pregnancy 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, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar		 PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More... 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 19102
    disease of anatomical entity 18443
      endocrine system disease 7029
        liver disease 3007
          intrahepatic cholestasis 147
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 1 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      gastrointestinal system disease 7175
        hepatobiliary disease 3117
          biliary tract disease 542
            bile duct disease 498
              cholestasis 346
                intrahepatic cholestasis 147
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 1 1
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