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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 3
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Accession:DOID:0070229 term browser browse the term
Definition:An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: ICP3;   pregnancy related cholestasis 3
 primary_id: OMIM:614972
 alt_id: RDO:9000229
For additional species annotation, visit the Alliance of Genome Resources.


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intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by OMIM:614972
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3
OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Pregnancy Complications 573
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 3 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      gastrointestinal system disease 6061
        hepatobiliary disease 2559
          biliary tract disease 460
            bile duct disease 429
              cholestasis 318
                intrahepatic cholestasis 125
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 3 2
paths to the root