{"orpha":730300,"name":"Squalene synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SQS deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730300/","orphanet_url":"https://www.orpha.net/en/disease/detail/730300","names":{"fr":{"name":"Déficit en squalène synthase","synonyms":["Déficit en SQS"]},"de":{"name":"Squalen-Synthase-Mangel","synonyms":["SQS-Defizienz"]},"es":{"name":"Deficiencia de escualeno sintasa","synonyms":["Deficiencia de SQS"]},"it":{"name":"Deficit di squalene sintasi","synonyms":["Deficit di SQS"]},"nl":{"name":"Deficiëntie van squaleensynthase","synonyms":["SQS-deficiëntie"]},"pt":{"name":"Squalene synthase deficiency"},"pl":{"name":"Squalene synthase deficiency","synonyms":["SQS deficiency"]},"cs":{"name":"Squalene synthase deficiency","synonyms":["SQS deficiency"]}},"xrefs":[{"source":"OMIM","code":"618156","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"FDFT1","name":"farnesyl-diphosphate farnesyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29909962[PMID]","hgnc":null,"ensembl":null,"omim":null,"loci":[]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}