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Summary Literature (0)
MIM:261630 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Xenbase Genes: qdpr

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009862 - dihydropteridine reductase deficiency
MONDO:0016543 - hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Disease Ontology (DO):
DOID:0081130 - BH4-deficient hyperphenylalaninemia C