amino acid metabolic disorder phenylketonuria DOID:9281 OMIM mapping confirmed by DO. [SN]. disease_ontology SNOMEDCT_US_2020_03_01:297225000 DOID:14455 SNOMEDCT_US_2020_03_01:154735006 OMIM:261600 NCI:C81315 MESH:D010661 GARD:7383 ICD9CM:270.1 MESH:D017042 UMLS_CUI:C0031485 UMLS_CUI:C0085547 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. Folling's disease ORDO:716 PKU maternal phenylketonuria phenylalaninemia