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Metadata
ID	DOID:0111067
Name	congenital bile acid synthesis defect 6
Definition	A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. https://www.ncbi.nlm.nih.gov/pubmed/27647924, https://www.ncbi.nlm.nih.gov/pubmed/27884763
Xrefs	MIM:617308
Subsets	DO_rare_slim
Synonyms	CBAS6 [EXACT]
Parent Relationships	is_a congenital bile acid synthesis defect
Subclass Logical Relationships	disease has basis in some structural_variant disease has basis in some Abnormality of prenatal development or birth