{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system 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-352306/","orphanet_url":"https://www.orpha.net/en/disease/detail/352306","names":{"fr":{"name":"Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante du système nerveux central"},"de":{"name":"Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung des ZNS"},"es":{"name":"Trastorno de la síntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante del sistema nervioso central"},"it":{"name":"Difetto della biosintesi di fosfolipidi, sfingolipidi e acidi grassi con coinvolgimento prevalente del sistema nervoso centrale"},"nl":{"name":"Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overwegend betrokkenheid van centraal zenuwstelsel"},"pt":{"name":"Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com envolvimento predominante do sistema nervoso central"},"pl":{"name":"Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie centralnego układu nerwowego"},"cs":{"name":"Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením centrálního nervového systému"},"uk":{"name":"Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням центральної нервової системи"},"zh":{"name":"以中枢神经系统受累为主的磷脂、鞘脂和脂肪酸生物合成障碍"},"tr":{"name":"Merkezi sinir sistemi ağırlıklı tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk"}},"xrefs":[{"source":"MONDO","code":"18118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680993","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":506353,"name":"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","type":"Disease"},{"orpha":139480,"name":"Autosomal recessive spastic paraplegia type 39","type":"Disease"},{"orpha":352333,"name":"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","type":"Disease"},{"orpha":329308,"name":"Fatty acid hydroxylase-associated neurodegeneration","type":"Disease"},{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease"},{"orpha":352328,"name":"MEGDEL syndrome","type":"Disease"},{"orpha":329303,"name":"PLA2G6-related neurodegeneration","type":"Clinical group"},{"orpha":157850,"name":"Pantothenate kinase-associated neurodegeneration","type":"Disease"},{"orpha":431361,"name":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","type":"Disease"},{"orpha":424027,"name":"Progressive myoclonic epilepsy type 8","type":"Disease"},{"orpha":816,"name":"Sjögren-Larsson syndrome","type":"Disease"},{"orpha":615938,"name":"Spastic paraparesis-cataracts-speech delay syndrome","type":"Clinical syndrome"},{"orpha":423296,"name":"Spinocerebellar ataxia type 38","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}