Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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:20981092 More... NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      endocrine system disease 6018
        liver disease 2796
          intrahepatic cholestasis 137
            intrahepatic cholestasis of pregnancy 7
              intrahepatic cholestasis of pregnancy 1 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        hepatobiliary disease 2899
          biliary tract disease 519
            bile duct disease 476
              cholestasis 331
                intrahepatic cholestasis 137
                  intrahepatic cholestasis of pregnancy 7
                    intrahepatic cholestasis of pregnancy 1 1
paths to the root