{"orpha":280293,"name":"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Pelizaeus-Merzbacher-like disease","url":"https://raremap.alftech.space/d/ORPHA-280293/","orphanet_url":"https://www.orpha.net/en/disease/detail/280293","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher-like par mutation de AIMP1"},"de":{"name":"Pelizaeus-Merzbacher-ähnliche Krankheit mit AIMP1-Genmutationen"},"es":{"name":"Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen AIMP1"},"it":{"name":"Pelizaeus-Merzbacher-simile da mutazioe di AIMP1"},"nl":{"name":"Pelizaeus-Merzbacher-achtige ziekte door AIMP1-mutatie"},"pt":{"name":"Doença de Pelizaeus-Merzbacher-like por mutação em AIMP1"},"pl":{"name":"Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji AIMP1"},"cs":{"name":"Nemoc podobná Pelizaeusově-Merzbacherově nemoci, způsobená AIMP1 mutací","synonyms":["Nemoc podobná Pelizaeus-Merzbacherově nemoci, způsobená AIMP1 mutací"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, спричинена мутацією AIMP1"},"zh":{"name":"AIMP1基因变异所致佩-梅样病"},"tr":{"name":"AIMP1 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık"}},"xrefs":[{"source":"OMIM","code":"260600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1837915951"},{"source":"MONDO","code":"0009843","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5396702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4266","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280270,"name":"Pelizaeus-Merzbacher-like disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AIMP1","name":"aminoacyl tRNA synthetase complex interacting multifunctional protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21092922[PMID]","hgnc":"10648","ensembl":"ENSG00000164022","omim":"603605","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}