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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: OMIM:147480
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM 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 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Pregnancy Complications 563
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 1 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      gastrointestinal system disease 6054
        hepatobiliary disease 2540
          biliary tract disease 457
            bile duct disease 426
              cholestasis 316
                intrahepatic cholestasis 123
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 1 1
paths to the root