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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, PKU, maternal phenylketonuria, phenylalaninemia,
Echinobase Genes :
MIM:261600 - phenylketonuria; pku |
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)