Congenital bile acid synthesis defect type 1 (Q90071)
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Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_352753987 |
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| English | Congenital bile acid synthesis defect type 1 |
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis. |
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CID11:ID_352753987
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dki-india-ID_352753987
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Concluído
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13 August 2026
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