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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:progressive familial intrahepatic cholestasis 4
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Accession:DOID:0070224 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: PFIC4;   TJP2 deficit
 related_synonym: progressive familial intrahepatic cholestasis, (PFIC4-like)
 primary_id: OMIM:615878
 xref: ORDO:480483
For additional species annotation, visit the Alliance of Genome Resources.



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progressive familial intrahepatic cholestasis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 OMIM
ClinVar
PMID:24033266 PMID:24614073 PMID:25741868 PMID:25921221 PMID:28492532 More... NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 PMID:32124521 NCBI chr 2:211,059,512...211,120,942
Ensembl chr 2:211,059,520...211,120,943
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          progressive familial intrahepatic cholestasis 12
            progressive familial intrahepatic cholestasis 4 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      gastrointestinal system disease 6620
        hepatobiliary disease 2773
          biliary tract disease 521
            bile duct disease 477
              cholestasis 329
                intrahepatic cholestasis 134
                  progressive familial intrahepatic cholestasis 12
                    progressive familial intrahepatic cholestasis 4 2
paths to the root