{"orpha":79195,"name":"Sterol biosynthesis disorder","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-79195/","orphanet_url":"https://www.orpha.net/en/disease/detail/79195","names":{"fr":{"name":"Anomalie de la biosynthèse du stérol"},"de":{"name":"Sterolbiosynthesedefekt"},"es":{"name":"Enfermedad de biosíntesis de esteroles"},"it":{"name":"Malattia della biosintesi degli steroli"},"nl":{"name":"Stoornis van sterolbiosynthese"},"pt":{"name":"Doença da biossíntese dos esteróis"},"pl":{"name":"Zaburzenie biosyntezy steroli"},"cs":{"name":"Porucha biosyntézy sterolů"},"uk":{"name":"Порушення біосинтезу стеролів"},"zh":{"name":"甾醇生物合成异常"},"tr":{"name":"Sterol biyosentez bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0019240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681287","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":79226,"name":"Sterol metabolism disorder","classifications":[150,156]}],"children":[{"orpha":139,"name":"CHILD syndrome","type":"Disease"},{"orpha":251383,"name":"CK syndrome","type":"Malformation syndrome"},{"orpha":35107,"name":"Desmosterolosis","type":"Disease"},{"orpha":1426,"name":"Greenberg dysplasia","type":"Disease"},{"orpha":46059,"name":"Lathosterolosis","type":"Disease"},{"orpha":401973,"name":"MEND syndrome","type":"Malformation syndrome"},{"orpha":309025,"name":"Mevalonate kinase deficiency","type":"Disease"},{"orpha":488168,"name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","type":"Malformation syndrome"},{"orpha":818,"name":"Smith-Lemli-Opitz syndrome","type":"Malformation syndrome"},{"orpha":730300,"name":"Squalene synthase deficiency","type":"Disease"},{"orpha":35173,"name":"X-linked dominant chondrodysplasia punctata","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}