{"orpha":79167,"name":"Disorder of urea cycle metabolism and ammonia detoxification","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-79167/","orphanet_url":"https://www.orpha.net/en/disease/detail/79167","names":{"fr":{"name":"Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac"},"de":{"name":"Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung"},"es":{"name":"Trastornos del metabolismo del ciclo de la urea y de la detoxificación del amonio"},"it":{"name":"Difetto del metabolismo del ciclo dell'urea e disintossicazione da ammoniaca"},"nl":{"name":"Stoornis van ureumcyclus en ammoniakdetoxificatie"},"pt":{"name":"Doença do metabolismo do ciclo da ureia e destoxificação da amónia"},"pl":{"name":"Zaburzenie metabolizmu cyklu mocznikowego i detoksykacji amoniaku"},"cs":{"name":"Poruchy močovinového cyklu a detoxikace amoniaku"},"uk":{"name":"Порушення метаболізму циклу сечовини та детоксикації аміаку"},"zh":{"name":"尿素循环代谢和氨解毒异常"},"tr":{"name":"Üre döngüsü metabolizması bozukluğu ve amonyak detoksifikasyonu"}},"xrefs":[{"source":"ICD-10","code":"E72.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"4739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681290","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7837","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":90,"name":"Argininemia","type":"Disease"},{"orpha":23,"name":"Argininosuccinic aciduria","type":"Disease"},{"orpha":147,"name":"Carbamoyl-phosphate synthetase 1 deficiency","type":"Disease"},{"orpha":187,"name":"Citrullinemia","type":"Category"},{"orpha":927,"name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","type":"Disease"},{"orpha":401948,"name":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","type":"Disease"},{"orpha":35878,"name":"Hyperinsulinism-hyperammonemia syndrome","type":"Disease"},{"orpha":415,"name":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","type":"Disease"},{"orpha":664,"name":"Ornithine transcarbamylase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}