{"orpha":209050,"name":"Qualitative or quantitative defects of protein ZASP","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-209050/","orphanet_url":"https://www.orpha.net/en/disease/detail/209050","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine ZASP"},"de":{"name":"ZASP-Protein, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de proteína ZASP"},"it":{"name":"Alterazioni qualitative o quantitative della proteina ZASP"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit ZASP"},"pt":{"name":"Deficiências qualitativas e quantitativas da proteina ZASP"},"pl":{"name":"Defekty jakościowe lub ilościowe białka ZASP"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu ZASP"},"uk":{"name":"Якісні або кількісні дефекти білка ZASP"},"zh":{"name":"ZASP蛋白定性或定量缺陷"},"tr":{"name":"Protein ZASP'nin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016190","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680840","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":98912,"name":"Late-onset distal myopathy, Markesbery-Griggs type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}