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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;   RDO:0001308
 xref: GARD:1289;   ORDO:79305
For additional species annotation, visit the Alliance of Genome Resources.


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progressive familial intrahepatic cholestasis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by OMIM:602347
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
OMIM
ClinVar
CTD
PMID:8666348, PMID:9419367, PMID:9923886, PMID:11313316, PMID:12891548, PMID:14999697, PMID:15077010, PMID:16696816, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18083082, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:20849526, PMID:21119540, PMID:22184139, PMID:22331132, PMID:23022423, PMID:23217326, PMID:23533021, PMID:23820649, PMID:24033266, PMID:24381502, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26324191, PMID:26474921, PMID:26699824, PMID:26900700, PMID:28492532, PMID:28552422, PMID:28776642, PMID:31319225, PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          progressive familial intrahepatic cholestasis 6
            progressive familial intrahepatic cholestasis 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          biliary tract disease 437
            bile duct disease 407
              cholestasis 312
                intrahepatic cholestasis 124
                  progressive familial intrahepatic cholestasis 6
                    progressive familial intrahepatic cholestasis 3 1
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.