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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 2
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Accession:DOID:0070222 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BSEP deficiency;   PFIC2;   PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
 broad_synonym: ABCB11-RELATED CONDITION;   FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
 primary_id: MESH:C535934
 alt_id: OMIM:601847
 xref: GARD:1288;   ORDO:79304


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progressive familial intrahepatic cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 disease_progression ISO DNA:mutation:cds:p.D482G(human)
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:9806540 PMID:10579978 PMID:11815775 PMID:12370274 More... RGD:14402418, RGD:14688048 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 ClinVar PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          progressive familial intrahepatic cholestasis 12
            progressive familial intrahepatic cholestasis 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          biliary tract disease 541
            bile duct disease 497
              cholestasis 343
                intrahepatic cholestasis 139
                  progressive familial intrahepatic cholestasis 12
                    progressive familial intrahepatic cholestasis 2 2
paths to the root