{"orpha":93612,"name":"Cystinuria type A","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Cystinuria","url":"https://raremap.alftech.space/d/ORPHA-93612/","orphanet_url":"https://www.orpha.net/en/disease/detail/93612","names":{"fr":{"name":"Cystinurie type A"},"de":{"name":"Zystinurie Typ A"},"es":{"name":"Cistinuria tipo A"},"it":{"name":"Cistinuria, tipo A"},"nl":{"name":"Cystinurie type A"},"pt":{"name":"Cistinúria tipo A"},"pl":{"name":"Cystinuria typu A"},"cs":{"name":"Cystinurie, typ A"},"uk":{"name":"Цистинурія, тип А"},"zh":{"name":"胱氨酸尿症A型"},"tr":{"name":"Sistinüri tip A"}},"xrefs":[{"source":"OMIM","code":"220100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1172657361"},{"source":"MONDO","code":"0019745","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":214,"name":"Cystinuria","classifications":[150,156,188,233]}],"children":[],"genes":[{"symbol":"SLC3A1","name":"solute carrier family 3 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21255007[PMID]","hgnc":"11025","ensembl":"ENSG00000138079","omim":"104614","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}