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.
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)
Synonyms:
exact_synonym:
CBA; cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 ClinVar Annotator: match by OMIM:235555 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6