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DeCS
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Descriptor English:
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Xanthomatosis, Cerebrotendinous
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Descriptor Spanish:
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xantomatosis cerebrotendinosa
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Descriptor Portuguese:
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Xantomatose Cerebrotendinosa
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Synonyms English:
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Bogaert-Scherer-Epstein Disease, Van
Cerebral Cholesterinoses
Cerebral Cholesterinosis
Cerebrotendinous Xanthomatoses
Cerebrotendinous Xanthomatosis
Disease, Van Bogaert-Scherer-Epstein
Van Bogaert Scherer Epstein Disease
Van Bogaert-Scherer-Epstein Disease
Xanthomatoses, Cerebrotendinous
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Tree Number:
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C16.320.565.398.925
C18.452.584.750.975
C18.452.648.398.925
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Definition English:
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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. |
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History Note English:
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97
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Allowable Qualifiers English:
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Record Number:
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32957
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Unique Identifier:
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D019294
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Occurrence in VHL:
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Similar:
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DeCS
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