{"orpha":289846,"name":"Glutathione synthetase deficiency with 5-oxoprolinuria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Glutathione synthetase deficiency","url":"https://raremap.alftech.space/d/ORPHA-289846/","orphanet_url":"https://www.orpha.net/en/disease/detail/289846","names":{"fr":{"name":"Déficit en glutathion synthétase avec 5-oxoprolinurie"},"de":{"name":"Glutathionsynthetase-Mangel mit 5-Oxoprolinurie"},"es":{"name":"Deficiencia de glutatión sintetasa con 5-oxoprolinuria"},"it":{"name":"Deficit di glutatione sintetasi con 5-oxoprolinuria"},"nl":{"name":"Deficiëntie van glutathionsynthetase met 5-oxoprolinurie"},"pt":{"name":"Deficiência de glutationa sintetase com 5-oxoprolinuria"},"pl":{"name":"Niedobór syntetazy glutationu z 5-oksoprolinurią"},"cs":{"name":"Deficit glutathionsyntetázy s 5-oxoprolinurií"},"uk":{"name":"Дефіцит глутатіонсинтетази з 5-оксопролінурією"},"zh":{"name":"谷胱甘肽合成酶缺乏症伴5-氧脯氨酸尿症"},"tr":{"name":"5-oksoprolinüri ile seyreden glutatyon sentetaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"266130","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2005562438"},{"source":"MONDO","code":"0009947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":32,"name":"Glutathione synthetase deficiency","classifications":[150,156,181,194]}],"children":[],"genes":[{"symbol":"GSS","name":"glutathione synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"4624","ensembl":"ENSG00000100983","omim":"601002","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}