{"orpha":209041,"name":"Qualitative or quantitative defects of desmin","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-209041/","orphanet_url":"https://www.orpha.net/en/disease/detail/209041","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la desmine"},"de":{"name":"Desmin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la desmina"},"it":{"name":"Alterazioni qualitative o quantitative di desmina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van desmine"},"pt":{"name":"Deficiências qualitativas e quantitativas de desmina"},"pl":{"name":"Defekty jakościowe lub ilościowe desminy"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty desminu"},"uk":{"name":"Якісні або кількісні дефекти десмину"},"zh":{"name":"结蛋白定性或定量缺陷"},"tr":{"name":"Desmin'in kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016187","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209038,"name":"Qualitative or quantitative defects of myofibrillar proteins","classifications":[156]}],"children":[{"orpha":84132,"name":"Desmin-related myopathy with Mallory body-like inclusions","type":"Disease"},{"orpha":98909,"name":"Desminopathy","type":"Disease"},{"orpha":85146,"name":"Neurogenic scapuloperoneal syndrome, Kaeser type","type":"Disease"},{"orpha":97244,"name":"Rigid spine syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}