Synonyms: CBA bile acid synthesis defect, congenital BASD

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:21996 (Orphanet:485631)
  • DOID:0050674 (MONDO:equivalentTo)
  • UMLS:CN239183 (MONDO:equivalentTo)
  • OMIMPS:607765 (MONDO:equivalentTo)
  • Orphanet:485631 (MONDO:equivalentTo)
  • EFO:0009039 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://www.orpha.net/ORDO/Orphanet_485631

http://linkedlifedata.com/resource/umls/id/CN239183

https://omim.org/phenotypicSeries/PS607765

http://purl.obolibrary.org/obo/DOID_0050674

has narrow synonym

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

id

MONDO:0018841

Term relations