JSON

congenital bile acid synthesis defect 6

^ http://purl.obolibrary.org/obo/MONDO_0015015

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0111067 (MONDO:equivalentTo)
  • OMIM:617308 (MONDO:equivalentTo)
  • UMLS:C4310624 (MONDO:ncbi_mim2gene_medline)
abbreviation
CBAS6 [ OMIM:617308 DOID:0111067 ]

IAO 0000233

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

definition

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.

exactMatch

https://omim.org/entry/617308, http://purl.obolibrary.org/obo/DOID_0111067, http://linkedlifedata.com/resource/umls/id/C4310624

has exact synonym

congenital bile acid synthesis defect caused by mutation in ACOX2, bile acid synthesis defect, congenital, 6, congenital bile acid synthesis defect type 6, CBAS6, bile acid synthesis defect, congenital, type 6, ACOX2 congenital bile acid synthesis defect

id

MONDO:0015015