{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","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-166469/","orphanet_url":"https://www.orpha.net/en/disease/detail/166469","names":{"fr":{"name":"Anomalie chromosomique avec épilepsie comme manifestation majeure"},"de":{"name":"Chromosomenanomalie mit Epilepsie als Hauptmerkmal"},"es":{"name":"Anomalía cromosómica con epilepsia como rasgo mayor"},"it":{"name":"Anomalia cromosomica con epilessia come segno principale"},"nl":{"name":"Chromosomale anomalie met epilepsie als hoofdkenmerk"},"pt":{"name":"Anomalia cromossómica com epilepsia como característica principal"},"pl":{"name":"Anomalia chromosomalna z padaczką jako głównym objawem"},"cs":{"name":"Chromozomální aberace s epilepsií jako hlavním příznakem"},"uk":{"name":"Хромосомна аномалія з епілепсією як основною ознакою"},"zh":{"name":"以癫痫为主要特征的染色体异常"},"tr":{"name":"Esas klinik özelliği epilepsi olan kromozom anomalisi"}},"xrefs":[{"source":"MONDO","code":"15652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":101998,"name":"Rare epilepsy","classifications":[181]},{"orpha":183512,"name":"Rare genetic epilepsy","classifications":[156]}],"children":[{"orpha":199318,"name":"15q13.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":1606,"name":"1p36 deletion syndrome","type":"Malformation syndrome"},{"orpha":228402,"name":"2q23.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":228384,"name":"5q14.3 microdeletion syndrome","type":"Etiological subtype"},{"orpha":495818,"name":"9q33.3q34.11 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":72,"name":"Angelman syndrome","type":"Malformation syndrome"},{"orpha":908,"name":"Fragile X syndrome","type":"Malformation syndrome"},{"orpha":3306,"name":"Inverted duplicated chromosome 15 syndrome","type":"Malformation syndrome"},{"orpha":96147,"name":"Kleefstra syndrome due to 9q34 microdeletion","type":"Etiological subtype"},{"orpha":217377,"name":"Microduplication Xp11.22p11.23 syndrome","type":"Malformation syndrome"},{"orpha":531,"name":"Miller-Dieker syndrome","type":"Malformation syndrome"},{"orpha":261537,"name":"Mowat-Wilson syndrome due to monosomy 2q22","type":"Etiological subtype"},{"orpha":884,"name":"Pallister-Killian syndrome","type":"Malformation syndrome"},{"orpha":1440,"name":"Ring chromosome 14 syndrome","type":"Malformation syndrome"},{"orpha":1444,"name":"Ring chromosome 20 syndrome","type":"Malformation syndrome"},{"orpha":280,"name":"Wolf-Hirschhorn syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}