{"orpha":352301,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis","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-352301/","orphanet_url":"https://www.orpha.net/en/disease/detail/352301","names":{"fr":{"name":"Trouble de la synthèse des phospholipides, sphingolipides et acides gras"},"de":{"name":"Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese"},"es":{"name":"Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos"},"it":{"name":"Difetto della biosintesi dei fosfolipidi, degli sfingolipidi e degli acidi grassi"},"nl":{"name":"Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese"},"pt":{"name":"Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos"},"pl":{"name":"Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych"},"cs":{"name":"Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin"},"uk":{"name":"Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот"},"zh":{"name":"磷脂、鞘脂和脂肪酸生物合成障碍"},"tr":{"name":"Fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk"}},"xrefs":[{"source":"MONDO","code":"0018117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18117","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309005,"name":"Disorder of lipid metabolism","classifications":[150,156]}],"children":[{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","type":"Category"},{"orpha":352309,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement","type":"Category"},{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","type":"Category"},{"orpha":506334,"name":"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}