JSON

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

ordo_group_of_disorders

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.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

rare inborn error of bile acid biosynthetic process

inborn error of bile acid biosynthetic process

inborn bile acid biosynthetic process disorder

has related synonym

inborn errors of bile acid synthesis

disorder of bile acid synthesis

id

MONDO:0019218