{"orpha":209193,"name":"Qualitative or quantitative defects of selenoprotein N1","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-209193/","orphanet_url":"https://www.orpha.net/en/disease/detail/209193","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la sélénoprotéine N1"},"de":{"name":"Selenoprotein N1, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de selenoproteína N1"},"it":{"name":"Alterazioni qualitative o quantitative della selenoproteina N1"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van selenoproteïne N1"},"pt":{"name":"Deficiências qualitativas e quantitativas de selenoproteína N1"},"pl":{"name":"Defekty jakościowe lub ilościowe selenoproteiny N1"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty selenoproteinu N1"},"uk":{"name":"Якісні або кількісні дефекти селенопротеїну N1"},"zh":{"name":"硒蛋白N1定性或定量缺陷"},"tr":{"name":"Selenoprotein N1'in kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016197","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680834","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":2020,"name":"Congenital fiber-type disproportion myopathy","type":"Disease"},{"orpha":84132,"name":"Desmin-related myopathy with Mallory body-like inclusions","type":"Disease"},{"orpha":598,"name":"Multiminicore myopathy","type":"Disease"},{"orpha":97244,"name":"Rigid spine syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}