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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: Progressive familial intrahepatic cholestasis 4 OMIM
ClinVar
PMID:24614073, PMID:25741868, PMID:25921221 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
G Usp53 ubiquitin specific peptidase 53 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) ClinVar PMID:25741868 NCBI chr 2:227,098,795...227,160,385
Ensembl chr 2:227,098,795...227,160,379
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          progressive familial intrahepatic cholestasis 6
            progressive familial intrahepatic cholestasis 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 2505
          biliary tract disease 438
            bile duct disease 408
              cholestasis 313
                intrahepatic cholestasis 124
                  progressive familial intrahepatic cholestasis 6
                    progressive familial intrahepatic cholestasis 4 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.