Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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: Folling's disease, Følling's disease, PKU, maternal phenylketonuria, phenylalaninemia,

Xenbase Genes : pah

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


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

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