{"orpha":209182,"name":"Qualitative or quantitative defects of nebulin","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-209182/","orphanet_url":"https://www.orpha.net/en/disease/detail/209182","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la nébuline"},"de":{"name":"Nebulin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de nebulina"},"it":{"name":"Alterazioni qualitative o quantitative di nebulina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van nebuline"},"pt":{"name":"Deficiências qualitativas e quantitativas de nebulina"},"pl":{"name":"Defekty jakościowe lub ilościowe nebuliny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty nebulinu"},"uk":{"name":"Якісні або кількісні дефекти небуліну"},"zh":{"name":"伴肌动蛋白定性或定量缺陷"},"tr":{"name":"Nebulinin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016194","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16194","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680844","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":171442,"name":"Adult-onset nemaline myopathy","type":"Disease"},{"orpha":171439,"name":"Childhood-onset nemaline myopathy","type":"Disease"},{"orpha":171433,"name":"Intermediate nemaline myopathy","type":"Disease"},{"orpha":171430,"name":"Severe congenital nemaline myopathy","type":"Disease"},{"orpha":171436,"name":"Typical nemaline myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}