这个词是什么意思？
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
中文名称索引；定义为 MeSH 英文原文，尚未逐条译审。MESH:D019294 · MeSH 2026。
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