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ABCD3 congenital bile acid synthesis defect

Go to external page http://purl.obolibrary.org/obo/MONDO_0014564

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: congenital bile acid synthesis defect type 5 congenital bile acid synthesis defect 5 CBAS5 ABCD3 congenital bile acid synthesis defect bile acid synthesis defect, congenital, type 5 congenital bile acid synthesis defect caused by mutation in ABCD3

This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0111066

https://omim.org/entry/616278

has related synonym

bile acid synthesis defect, congenital, 5

id

MONDO:0014564

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014564