{"orpha":352309,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves 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-352309/","orphanet_url":"https://www.orpha.net/en/disease/detail/352309","names":{"fr":{"name":"Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des nerfs périphériques"},"de":{"name":"Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung der peripheren Nerven"},"es":{"name":"Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante de los nervios periféricos"},"it":{"name":"Difetto della biosintesi di fosfolipidi, sfingolipidi e acidi grassi con coinvolgimento prevalente dei nervi periferici"},"nl":{"name":"Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overwegend betrokkenheid van perifere zenuwen"},"pt":{"name":"Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com comprometimento predominante dos nervos periféricos"},"pl":{"name":"Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie nerwów obwodowych"},"cs":{"name":"Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením periferních nervů"},"uk":{"name":"Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням периферичних нервів"},"zh":{"name":"磷脂、鞘脂和脂肪酸生物合成障碍以周围神经系统受累为主"},"tr":{"name":"Periferik sinirlerin dominant tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk"}},"xrefs":[{"source":"MONDO","code":"18119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680992","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":36386,"name":"Hereditary sensory and autonomic neuropathy type 1","type":"Disease"},{"orpha":171848,"name":"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}