{"orpha":729224,"name":"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","MOGHE"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-729224/","orphanet_url":"https://www.orpha.net/en/disease/detail/729224","names":{"fr":{"name":"Epilepsie-malformation corticale légère-hyperplasie oligodendrogliale","synonyms":["MOGHE"]},"de":{"name":"Epilepsie mit milder kortikaler Fehlbildung und oligodendroglialer Hyperplasie","synonyms":["MOGHE","Milde kortikale Entwicklungsfehlbildung mit oligodendroglialer Hyperplasie und Epilepsie"]},"es":{"name":"Epilepsia-malformación cortical leve-hiperplasia oligodendroglial","synonyms":["Malformación leve del desarrollo cortical con hiperplasia oligodendroglial y epilepsia","Síndrome MOGHE"]},"it":{"name":"Epilessia-malformazione corticale lieve-iperplasia oligodendrogliale","synonyms":["MOGHE","Malformazione lieve dello sviluppo corticale con iperplasia oligodendrogliale ed epilessia"]},"nl":{"name":"Epilepsie - milde corticale malformatie - oligodendrogliale hyperplasie","synonyms":["MOGHE","Milde malformatie van corticale ontwikkeling met oligodendrogliale hyperplasie en epilepsie","Lichte misvorming van hersenschorsontwikkeling met hyperplasie van oligodendrocyten en epilepsie","Milde MCD met oligodendrogliale hyperplasie en epilepsie"]},"pt":{"name":"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia"},"pl":{"name":"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia","synonyms":["Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","MOGHE"]},"cs":{"name":"Epilepsy-mild cortical malformation-oligodendroglial hyperplasia","synonyms":["Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","MOGHE"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268950,"name":"Cerebral cortical dysplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SLC35A2","name":"solute carrier family 35 member A2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"39165213[PMID]","hgnc":"11022","ensembl":"ENSG00000102100","omim":"314375","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":113.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}