Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:progressive familial intrahepatic cholestasis
go back to main search page
Accession:DOID:0070221 term browser browse the term
Definition:An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)
Synonyms:exact_synonym: PFIC; Byler disease
 xref: OMIM:PS211600
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB11 ATP binding cassette subfamily B member 11 JBrowse link 2B 173,664,518 173,776,233 RGD:9068941
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 7 93,046,085 93,119,439 RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 54,370,844 54,522,158 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB11 ATP binding cassette subfamily B member 11 JBrowse link 2B 173,664,518 173,776,233 RGD:7240710
RGD:9068941
G ATP8B1 ATPase phospholipid transporting 8B1 JBrowse link 18 54,370,844 54,522,158 RGD:9068941
progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB4 ATP binding cassette subfamily B member 4 JBrowse link 7 93,046,085 93,119,439 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TJP2 tight junction protein 2 JBrowse link 9 67,865,958 68,020,569 RGD:7240710
RGD:9068941
progressive familial intrahepatic cholestasis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NR1H4 nuclear receptor subfamily 1 group H member 4 JBrowse link 12 101,457,885 101,548,058 RGD:9068941
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11857
    Developmental Diseases 8181
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7002
        genetic disease 6524
          progressive familial intrahepatic cholestasis 5
            progressive familial intrahepatic cholestasis 1 3
            progressive familial intrahepatic cholestasis 2 2
            progressive familial intrahepatic cholestasis 3 1
            progressive familial intrahepatic cholestasis 4 1
            progressive familial intrahepatic cholestasis 5 1
Path 2
Term Annotations click to browse term
  disease 11857
    disease of anatomical entity 11510
      gastrointestinal system disease 3675
        hepatobiliary disease 2127
          biliary tract disease 367
            bile duct disease 337
              cholestasis 253
                intrahepatic cholestasis 105
                  progressive familial intrahepatic cholestasis 5
                    progressive familial intrahepatic cholestasis 1 3
                    progressive familial intrahepatic cholestasis 2 2
                    progressive familial intrahepatic cholestasis 3 1
                    progressive familial intrahepatic cholestasis 4 1
                    progressive familial intrahepatic cholestasis 5 1
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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