{"orpha":207110,"name":"Qualitative or quantitative defects of myotubularin","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-207110/","orphanet_url":"https://www.orpha.net/en/disease/detail/207110","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la myotubularine"},"de":{"name":"Myotubularin, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la miotubularina"},"it":{"name":"Deficit qualitativi o quantitativi di miotubularina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van myotubularine"},"pt":{"name":"Deficiências qualitativas ou quantitativas da miotubularina"},"pl":{"name":"Defekty jakościowe lub ilościowe miotubularyny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty myotubularinu"},"uk":{"name":"Якісні або кількісні дефекти міотубулярину"},"zh":{"name":"肌管蛋白的定性或定量缺陷"},"tr":{"name":"Miyotubularinin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"16154","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":604680,"name":"Symptomatic form of X-linked centronuclear myopathy in female carriers","type":"Disease"},{"orpha":596,"name":"X-linked centronuclear myopathy","type":"Disease"},{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}