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Metadata
ID	DOID:0111070
Name	congenital bile acid synthesis defect 3
Definition	A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/9802883
Xrefs	MESH:C566340 MIM:613812 ORDO:79302 UMLS_CUI:C3151147
Subsets	DO_rare_slim
Synonyms	CBAS3 [EXACT] oxysterol 7-alpha-hydroxylase deficiency [EXACT]
Parent Relationships	is_a congenital bile acid synthesis defect