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| Term | congenital bile acid synthesis defect | ID (Ontology) | DOID:0050674 (Human Disease) |
| Definition | A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. | ||
| Also Known As | "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" ; "CBA" ; "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" | ||
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lipid metabolism disorder |__steroid inherited metabolic disorder__ disease | |__physical disorder_____________________| congenital bile acid synthesis defect 10 rec. |__congenital bile acid synthesis defect 1 1 rec. |__congenital bile acid synthesis defect 2 3 rec. |__congenital bile acid synthesis defect 3 |__congenital bile acid synthesis defect 4 1 rec. |__congenital bile acid synthesis defect 5 1 rec. |__congenital bile acid synthesis defect 6 4 rec. |
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physical disorder steroid inherited metabolic disorder |
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ICD10CM:K76.8 ORDO:485631 |
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