JSON

congenital bile acid synthesis defect

^ http://purl.obolibrary.org/obo/MONDO_0018841

Term info

database cross reference
  • Orphanet:485631 (MONDO:equivalentTo)
  • DOID:0050674 (MONDO:equivalentTo)
  • OMIMPS:607765 (MONDO:equivalentTo)
  • EFO:0009039 (MONDO:equivalentTo)
  • UMLS:CN239183 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
BASD [ Orphanet:485631 ]

abbreviation
CBA [ DOID:0050674 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/CN239183, https://omim.org/phenotypicSeries/PS607765, http://purl.obolibrary.org/obo/Orphanet_485631, http://purl.obolibrary.org/obo/DOID_0050674

has exact synonym

CBA, bile acid synthesis defect, congenital, BASD

has narrow synonym

cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency

id

MONDO:0018841

Term relations