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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
 primary_id: MESH:C535934
 alt_id: OMIM:601847
 xref: GARD:1288;   ORDO:79304
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
ClinVar Annotator: match by OMIM:601847
ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis 2
DNA:mutation:cds:p.D482G(human)
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human
OMIM
ClinVar
PMID:9806540, PMID:10579978, PMID:12370274, PMID:12717091, PMID:14672610, PMID:14999697, PMID:15077010, PMID:15300568, PMID:15791618, PMID:16039748, PMID:16763017, PMID:16871584, PMID:17855769, PMID:18395098, PMID:18692205, PMID:18798335, PMID:19101985, PMID:19571440, PMID:20010382, PMID:20232290, PMID:20583290, PMID:20799350, PMID:22795478, PMID:23022423, PMID:23279303, PMID:23684896, PMID:23750872, PMID:24115678, PMID:24231640, PMID:24402531, PMID:24627769, PMID:24969679, PMID:24991443, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:27050426, PMID:27153395, PMID:27368585, PMID:28492532, PMID:30311386, PMID:31319225, PMID:32581362, PMID:32860008, PMID:20447715, PMID:23758865 RGD:14402418, RGD:14688048 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2 ClinVar PMID:15239083, PMID:15888793, PMID:19731236, PMID:20981092, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
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 2 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 2 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.