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disease > congenital disease > malformation > desmosterolosis
disease > genetic disease > hereditary disease > desmosterolosis
disease > metabolic diseases > desmosterolosis
disease > rare disease > desmosterolosis

Terme préférentiel

desmosterolosis  

Définition

  • Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol.It has been associated with 24-dehydrocholesterol reductase. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-D6XMQL01-N

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