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Summary Literature (0)
MIM:236250 - HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Xenbase Genes: mthfr

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

Disease Ontology (DO):
DOID:9263 - homocystinuria