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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, PMID:16039748, PMID:16871584, PMID:17855769, PMID:18395098, PMID:19101985, PMID:20232290, PMID:20583290, PMID:23022423, PMID:23279303, PMID:23750872, PMID:24231640, PMID:24402531, PMID:24991443, PMID:25741868, PMID:27050426, PMID:27153395, PMID:28492532, PMID:32581362 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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, PMID:12891548, PMID:14999697, PMID:15077010, PMID:16696816, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18083082, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:20849526, PMID:21119540, PMID:22331132, PMID:23022423, PMID:23217326, PMID:23533021, PMID:23820649, PMID:24033266, PMID:24381502, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26324191, PMID:26474921, PMID:26699824, PMID:26900700, PMID:28492532, PMID:28776642, PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Pregnancy Complications 571
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 3 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          biliary tract disease 437
            bile duct disease 407
              cholestasis 312
                intrahepatic cholestasis 124
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.