has material basis in germline mutation in PAH autosomal recessive disease phenylketonuria https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/phenylketonuria MedDRA:10034872 phenylalanine hydroxylase deficiency MESH:D010661 UMLS:C0031485 PAH deficiency NANDO:2200467 GARD:0007383 icd11.foundation:444122923 SCTID:7573000 NORD:1574 NANDO:2201075 phenylketonuria NCIT:C81315 PKU ICD9:270.1 MONDO:0009861 MEDGEN:19244 OMIM:261600 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. DOID:9281 hyperphenylalaninemia, non-PKU mild NANDO:1200785 NANDO:1200784 Orphanet:716 disorder of phenylalanine metabolism