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Summary Literature (0)
MIM:264070 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D

Xenbase Genes: pcbd1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009908 - pterin-4 alpha-carbinolamine dehydratase 1 deficiency
MONDO:0016543 - hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Disease Ontology (DO):
DOID:0081131 - BH4-deficient hyperphenylalaninemia D