{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","type":"Clinical group","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-238517/","orphanet_url":"https://www.orpha.net/en/disease/detail/238517","names":{"fr":{"name":"Syndrome d'hypotonie-cystinurie type 1"},"de":{"name":"Hypotonie-Cystinurie-Syndrom Typ 1"},"es":{"name":"Síndrome de hipotonía-cistinuria tipo 1"},"it":{"name":"Sindrome ipotonia-cistinuria, tipo 1"},"nl":{"name":"Hypotonie - cystinurie-syndroom type 1"},"pt":{"name":"Hipotonia - cistinúria tipo 1"},"pl":{"name":"Zespół hipotonii i cystynurii typu 1"},"cs":{"name":"Syndrom zahrnující hypotonii a cystinurii, typ 1"},"uk":{"name":"Синдром гіпотонії-цистинурії 1 типу"},"zh":{"name":"低张力性胱氨酸尿1型综合征"},"tr":{"name":"Hipotoni-sistinüri tip 1 sendromu"}},"xrefs":[{"source":"ICD-11","code":"GB90.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1852649756"},{"source":"MONDO","code":"11669","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":369886,"name":"Homozygous 2p21 microdeletion syndrome","classifications":[147,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":163693,"name":"2p21 microdeletion syndrome","type":"Disease"},{"orpha":238523,"name":"Atypical hypotonia-cystinuria syndrome","type":"Disease"},{"orpha":163690,"name":"Hypotonia-cystinuria syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}