{"orpha":183515,"name":"Rare genetic medullar disease","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-183515/","orphanet_url":"https://www.orpha.net/en/disease/detail/183515","names":{"fr":{"name":"Maladie de la moelle épinière d'origine génétique"},"de":{"name":"Medulläre Krankheit, genetisch bedingte, seltene"},"es":{"name":"Enfermedad genética rara de la médula espinal"},"it":{"name":"Malattia genetica rara del midollo"},"nl":{"name":"Zeldzame genetische medullaire ziekte"},"pt":{"name":"Doença medular genética rara"},"pl":{"name":"Rzadka choroba szpiku kostnego uwarunkowana genetycznie"},"cs":{"name":"Vzácná geneticky podmíněná onemocnění míchy"},"uk":{"name":"Рідкісне генетичне медулярне захворювання"},"zh":{"name":"罕见遗传性延髓疾病"},"tr":{"name":"Nadir genetik medüller hastalık"}},"xrefs":[{"source":"UMLS","code":"C5681838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]}],"children":[{"orpha":2585,"name":"Ataxia-pancytopenia syndrome","type":"Malformation syndrome"},{"orpha":370034,"name":"Familial syringomyelia","type":"Clinical subtype"},{"orpha":2285,"name":"Primary basilar invagination","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}