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Congenital bile acid synthesis defect type 3
ORPHA:79302 · Disease · Disorder
HPO 表現型（共 12 項）
Frequent (79-30%)(12)
- Abnormality of vitamin metabolismHP:0100508
- Bile duct proliferationHP:0001408
- CholestasisHP:0001396
- CirrhosisHP:0001394
- Elevated circulating alanine aminotransferase concentrationHP:0031964
- Elevated circulating alkaline phosphatase concentrationHP:0003155
- Elevated circulating aspartate aminotransferase concentrationHP:0031956
- Fat malabsorptionHP:0002630
- Hepatic failureHP:0001399
- HepatosplenomegalyHP:0001433
- HyperbilirubinemiaHP:0002904
- JaundiceHP:0000952