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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 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Pregnancy Complications 571
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 1 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        hepatobiliary disease 2486
          biliary tract disease 437
            bile duct disease 407
              cholestasis 312
                intrahepatic cholestasis 124
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 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.