inborn disorder of bile acid synthesis
http://purl.obolibrary.org/obo/MONDO_0019218
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. [ Orphanet:79168 ]
Term info
- GTR:AN0923838 (UMLS:CN544763)
- UMLS:CN544763 (MONDO:equivalentTo)
- Orphanet:79168 (MONDO:equivalentTo)
- UMLS:CN231736 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
http://linkedlifedata.com/resource/umls/id/CN544763, http://linkedlifedata.com/resource/umls/id/CN231736, http://purl.obolibrary.org/obo/Orphanet_79168
rare inborn error of bile acid biosynthetic process, inborn error of bile acid biosynthetic process, inborn bile acid biosynthetic process disorder
inborn errors of bile acid synthesis, disorder of bile acid synthesis
MONDO:0019218