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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:congenital bile acid synthesis defect 3
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Accession:DOID:0111070 term browser browse the term
Definition:A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: CBAS3;   Congenital Bile Acid Synthesis Defect Type 3 (CBAS3);   oxysterol 7-alpha-hydroxylase deficiency
 broad_synonym: CYP7B1-RELATED CONDITION
 primary_id: MESH:C566340
 alt_id: MIM:613812
 xref: ORDO:79302


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congenital bile acid synthesis defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP		 ClinVar Annotator: match by term: CYP7B1-related condition
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3
ClinVar Annotator: match by term: CYP7B1-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:17503452 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G LOC130000507 ATAC-STARR-seq lymphoblastoid silent region 19243 IAGP ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3
ClinVar Annotator: match by term: CYP7B1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,798,535...64,798,644 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    physical disorder 8581
      congenital bile acid synthesis defect 9
        congenital bile acid synthesis defect 3 2
Path 2
Term Annotations click to browse term
  disease 146647
    disease of anatomical entity 133718
      gastrointestinal system disease 21116
        hepatobiliary disease 5176
          biliary tract disease 1644
            bile duct disease 1252
              cholestasis 748
                congenital bile acid synthesis defect 9
                  congenital bile acid synthesis defect 3 2
paths to the root