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Summary Literature (0)
DOID:9281 - phenylketonuria

Disease Ontology Definition:An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Synonyms: Følling's disease, Folling's disease, maternal phenylketonuria, phenylalaninemia, PKU

Xenbase Genes : pah

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009861 - phenylketonuria


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)