{"orpha":79196,"name":"Disorder of the gamma-glutamyl cycle","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-79196/","orphanet_url":"https://www.orpha.net/en/disease/detail/79196","names":{"fr":{"name":"Trouble du cycle du gamma-glutamyl","synonyms":["Anomalie du cycle du gamma-glutamyl"]},"de":{"name":"Gamma-Glutamyl-Zyklus-Störung"},"es":{"name":"Enfermedad del ciclo de la gamma-glutamil"},"it":{"name":"Malattia del ciclo del gamma-glutamile"},"nl":{"name":"Stoornis van gamma-glutamylcyclus"},"pt":{"name":"Doença do ciclo da gama-glutamil"},"pl":{"name":"Zaburzenie cyklu gamma-glutamylowego"},"cs":{"name":"Poruchy gamaglutamylového cyklu"},"uk":{"name":"Порушення гамма-глутамілового циклу"},"zh":{"name":"γ-谷氨酰基循环异常"},"tr":{"name":"Gama-glutamil döngüsü bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C50.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"34853044"},{"source":"MONDO","code":"0019241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268517","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":33572,"name":"5-oxoprolinase deficiency","type":"Disease"},{"orpha":33573,"name":"Gamma-glutamyl transpeptidase deficiency","type":"Disease"},{"orpha":33574,"name":"Glutamate-cysteine ligase deficiency","type":"Disease"},{"orpha":32,"name":"Glutathione synthetase deficiency","type":"Disease"},{"orpha":728764,"name":"NIT1-related cerebral small vessel disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":null}