{"orpha":209056,"name":"Qualitative or quantitative defects of telethonin","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-209056/","orphanet_url":"https://www.orpha.net/en/disease/detail/209056","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la téléthonine"},"de":{"name":"Telethonin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de teletonina"},"it":{"name":"Alterazioni qualitative o quantitative di telethonina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van telethonine"},"pt":{"name":"Deficiências qualitativas e quantitativas de teletonina"},"pl":{"name":"Defekty jakościowe lub ilościowe teletoniny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty telethoninu"},"uk":{"name":"Якісні або кількісні дефекти телетоніну"},"zh":{"name":"端粒蛋白定性或定量缺陷"},"tr":{"name":"Teletoninin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016192","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680842","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":34514,"name":"Telethonin-related limb-girdle muscular dystrophy R7","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}