{"orpha":280282,"name":"Pelizaeus-Merzbacher-like disease due to GJC2 mutation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PMLD1"],"definition":null,"note":"This disease is described under Pelizaeus-Merzbacher-like disease","url":"https://raremap.alftech.space/d/ORPHA-280282/","orphanet_url":"https://www.orpha.net/en/disease/detail/280282","names":{"fr":{"name":"Maladie de Pelizaeus-Merzbacher-like par mutation de GJC2","synonyms":["PMLD1"]},"de":{"name":"Pelizaeus-Merzbacher-ähnliche Krankheit mit GJC2-Genmutationen","synonyms":["PMLD1"]},"es":{"name":"Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen GJC2","synonyms":["Enfermedad de Pelizaeus-Merzbacher-like por una mutación en el gen GJC2","PMLD1"]},"it":{"name":"Pelizaeus-Merzbacher-simile da mutazione di GJC2","synonyms":["PMLD1"]},"nl":{"name":"Pelizaeus-Merzbacher-achtige ziekte door GJC2-mutatie","synonyms":["PMLD1"]},"pt":{"name":"Doença de Pelizaeus-Merzbacher-like por mutação em GJC2","synonyms":["PMLD"]},"pl":{"name":"Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji GJC2","synonyms":["PMLD1"]},"cs":{"name":"Nemoc podobná Pelizaeusově-Merzbacherově, způsobená mutacemi v GJC2 genu","synonyms":["PMLD1","Nemoc podobná Pelizaeus-Merzbacherově, způsobená mutacemi v GJC2 genu"]},"uk":{"name":"Хвороба Пеліцея-Мерцбахера, спричинена мутацією GJC2","synonyms":["PMLD1"]},"zh":{"name":"GJC2基因变异所致佩-梅样病","synonyms":["PMLD1"]},"tr":{"name":"GJC2 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık","synonyms":["PMLD1"]}},"xrefs":[{"source":"OMIM","code":"608804","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":"1983099839"},{"source":"MONDO","code":"0012125","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837355","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":"GJC2","name":"gap junction protein gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22669416[PMID]_24374284[PMID]","hgnc":"17494","ensembl":"ENSG00000198835","omim":"608803","loci":["1q42.13"]}],"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}