{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","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-352312/","orphanet_url":"https://www.orpha.net/en/disease/detail/352312","names":{"fr":{"name":"Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des muscles squelettiques"},"de":{"name":"Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung der Skelettmuskeln"},"es":{"name":"Trastorno de la biosíntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante del músculo esquelético"},"it":{"name":"Difetto della biosintesi dei fosfolipidi, degli sfingolipidi e degli acidi grassi con coinvolgimento muscolare prevalente"},"nl":{"name":"Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overheersende betrokkenheid van de skeletspieren"},"pt":{"name":"Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com envolvimento predominante do músculo esquelético"},"pl":{"name":"Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie mięśni szkieletowych"},"cs":{"name":"Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením kosterního svalstva"},"uk":{"name":"Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням скелетних мязів"},"zh":{"name":"磷脂、鞘脂和脂肪酸生物合成障碍以骨骼肌受累为主"},"tr":{"name":"İskelet kası ağırlıklı olarak tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk"}},"xrefs":[{"source":"MONDO","code":"18120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680991","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352301,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis","classifications":[150,156]}],"children":[{"orpha":111,"name":"Barth syndrome","type":"Disease"},{"orpha":1369,"name":"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","type":"Disease"},{"orpha":99845,"name":"Genetic recurrent myoglobinuria","type":"Disease"},{"orpha":280671,"name":"Megaconial congenital muscular dystrophy","type":"Disease"},{"orpha":165,"name":"Neutral lipid storage disease","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}