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Summary Literature (0)
MIM:233910 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Xenbase Genes: gch1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016543 - hyperphenylalaninemia due to tetrahydrobiopterin deficiency
MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Disease Ontology (DO):
DOID:0112225 - BH4-deficient hyperphenylalaninemia B