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Summary Literature (0)
MIM:607483 - THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2

Xenbase Genes: slc19a3

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011841 - biotin-responsive basal ganglia disease

Disease Ontology (DO):
DOID:0050659 - biotin-responsive basal ganglia disease