congenital bile acid synthesis defect 6

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 ]

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

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C4310624 (MONDO:ncbi_mim2gene_medline)
DOID:0111067 (MONDO:equivalentTo)
OMIM:617308 (MONDO:equivalentTo)

Subsets

rare, inferred_rare, clingen

IAO 0000233

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

exactMatch

https://omim.org/entry/617308

http://purl.obolibrary.org/obo/DOID_0111067

http://linkedlifedata.com/resource/umls/id/C4310624

MONDO:0015015

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0015015

Term relations

Subclass of:

congenital bile acid synthesis defect