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Metadata
ID	DOID:0111066
Name	congenital bile acid synthesis defect 5
Definition	A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/25168382
Xrefs	MIM:616278
Subsets	DO_rare_slim
Synonyms	CBAS5 [EXACT]
Parent Relationships	is_a congenital bile acid synthesis defect