{"orpha":79254,"name":"Classic phenylketonuria","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Classic PKU"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Phenylketonuria","url":"https://raremap.alftech.space/d/ORPHA-79254/","orphanet_url":"https://www.orpha.net/en/disease/detail/79254","names":{"fr":{"name":"Phénylcétonurie classique","synonyms":["PCU classique","PKU classique"]},"de":{"name":"Phenylketonurie, klassische","synonyms":["PKU, klassische"]},"es":{"name":"Fenilcetonuria clásica","synonyms":["PKU clásica"]},"it":{"name":"Fenilchetonuria classica","synonyms":["PKU classica"]},"nl":{"name":"Klassieke fenylketonurie","synonyms":["Klassieke PKU"]},"pt":{"name":"Fenilcetonúria típica"},"pl":{"name":"Klasyczna fenylketonuria","synonyms":["Classical PKU","Fenyloketonuria klasyczna","PKU klasyczna"]},"cs":{"name":"Klasická fenylketonurie","synonyms":["Klasická PKU"]},"uk":{"name":"Класична фенілкетонурія","synonyms":["Класична ФКУ"],"definition":"A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications."},"zh":{"name":"典型苯丙酮尿症","synonyms":["经典型PKU"]},"tr":{"name":"Klasik fenilketonüri","synonyms":["Klasik PKU"]}},"xrefs":[{"source":"ICD-10","code":"E70.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C50.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2084504393"},{"source":"MONDO","code":"0019259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751434","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10034875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":716,"name":"Phenylketonuria"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}