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congenital bile acid synthesis defect 3

^ http://purl.obolibrary.org/obo/MONDO_0013439

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. [ Orphanet:79302 ]

Term info

database cross reference
  • OMIM:613812 (Orphanet:79302/e)
  • Orphanet:79302 (OMIM:613812)
  • MESH:C566340 (Orphanet:79302/e)
  • UMLS:C4304715 (MONDO:equivalentTo)
  • SCTID:719454003 (MONDO:equivalentTo)
  • DOID:0111070 (MONDO:equivalentTo)
  • UMLS:C3151147 (Orphanet:79302/e)
Subsets

ordo_disease

abbreviation
BASD3 [ Orphanet:79302 ]

abbreviation
CBAS3 [ MONDO:Lexical DOID:0111070 OMIM:613812 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.

exactMatch

http://identifiers.org/mesh/C566340, http://linkedlifedata.com/resource/umls/id/C3151147, https://omim.org/entry/613812, http://purl.obolibrary.org/obo/Orphanet_79302, http://identifiers.org/snomedct/719454003, http://purl.obolibrary.org/obo/DOID_0111070, http://linkedlifedata.com/resource/umls/id/C4304715

has exact synonym

congenital bile acid synthesis defect type 3, BASD3, CYP7B1 congenital bile acid synthesis defect, congenital bile acid synthesis defect caused by mutation in CYP7B1, CBAS3, bile acid synthesis defect, congenital, type 3, oxysterol 7-alpha-hydroxylase deficiency

has related synonym

bile acid synthesis defect, congenital, 3

id

MONDO:0013439