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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 3
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Accession:DOID:0070223 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)
Synonyms:exact_synonym: ABCB4-related intrahepatic cholestasis;   Low gamma-GT Familial Intrahepatic Cholestasis;   MDR3 Deficiency;   PFIC3;   progressive familial intrahepatic cholestasis 3 (PFIC 3);   progressive familial intrahepatic cholestasis 3 (PFIC3);   progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase;   progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
 primary_id: MESH:C535935
 alt_id: OMIM:602347
 xref: GARD:1289;   ORDO:79305


show annotations for term's descendants           Sort by:
progressive familial intrahepatic cholestasis 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 IAGP ClinVar Annotator: match by term: MDR3 deficiency ClinVar PMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 More... NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP
EXP		 ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis
ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis | ClinVar Annotator: match by term: MDR3 deficiency
ClinVar Annotator: match by term: ABCB4-Related Intrahepatic Cholestasis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8666348 PMID:9419367 PMID:9536098 PMID:9923886 PMID:11313316 More... NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G LOC129998756 ATAC-STARR-seq lymphoblastoid silent region 18347 IAGP ClinVar Annotator: match by term: MDR3 deficiency
ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis		 ClinVar PMID:25741868
G LOC129998757 ATAC-STARR-seq lymphoblastoid silent region 18348 IAGP ClinVar Annotator: match by term: MDR3 deficiency ClinVar PMID:25741868
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          progressive familial intrahepatic cholestasis 19
            progressive familial intrahepatic cholestasis 3 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      gastrointestinal system disease 8167
        hepatobiliary disease 3236
          biliary tract disease 595
            bile duct disease 546
              cholestasis 383
                intrahepatic cholestasis 169
                  progressive familial intrahepatic cholestasis 19
                    progressive familial intrahepatic cholestasis 3 4
paths to the root