autosomal recessive disease phenylketonuria https://github.com/monarch-initiative/mondo/issues/10251 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/phenylketonuria NCIT:C81315 PKU MedDRA:10034872 A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. ICD9:270.1 MESH:D010661 MONDO:0009861 NANDO:2200467 GARD:0007383 OMIM:261600 icd11.foundation:444122923 DOID:9281 NANDO:2201075 phenylketonuria phenylalanine hydroxylase deficiency SCTID:190687004 NANDO:1200785 NANDO:1200784 PAH deficiency hyperphenylalaninemia, non-PKU mild Orphanet:716 NORD:65 phenylalanine hydroxylase deficiency