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cerebral folate deficiency

Disease Summary
Associated Targets (0)

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Mondo Description Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.
Mondo Term and Equivalent IDs
MONDO:0100034:  cerebral folate deficiency
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
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