Desmosterolosis
| Desmosterolosis | |
|---|---|
 |
|
| Desmosterol | |
| Classification and external resources | |
| ICD-10 | Q87.8 |
| OMIM | 602398 |
| Orphanet | 35107 |
Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol.
It has been associated with 24-dehydrocholesterol reductase.
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