inborn disorder of bile acid synthesis

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GTR:AN0923838 (UMLS:CN544763)
  • UMLS:CN231736 (MONDO:equivalentTo)
  • UMLS:CN544763 (MONDO:equivalentTo)
  • Orphanet:79168 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
  • http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml
definition
  • 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.
exactMatch
  • http://linkedlifedata.com/resource/umls/id/CN544763
  • http://linkedlifedata.com/resource/umls/id/CN231736
  • http://www.orpha.net/ORDO/Orphanet_79168
has exact synonym
  • inborn error of bile acid biosynthetic process
  • inborn bile acid biosynthetic process disorder
  • rare inborn error of bile acid biosynthetic process
has related synonym
  • inborn errors of bile acid synthesis
  • disorder of bile acid synthesis
id
  • MONDO:0019218