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Summary Literature (0)
MIM:261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Xenbase Genes: pts

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009863 - BH4-deficient hyperphenylalaninemia A
MONDO:0016543 - hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Disease Ontology (DO):
DOID:0090106 - BH4-deficient hyperphenylalaninemia A