{"orpha":284786,"name":"Qualitative or quantitative defects of troponin","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-284786/","orphanet_url":"https://www.orpha.net/en/disease/detail/284786","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la troponine"},"de":{"name":"Troponin, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la troponina"},"it":{"name":"Difetti qualitativi o quantitativi della troponina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van troponine"},"pt":{"name":"Deficiência qualitativa ou quantitativa da troponina"},"pl":{"name":"Jakościowe lub ilościowe defekty troponiny"},"cs":{"name":"Kvantitativní nebo kvalitativní defekty troponinu"},"uk":{"name":"Якісні або кількісні дефекти тропоніну"},"zh":{"name":"肌钙蛋白的定性或定量缺陷"},"tr":{"name":"Troponinin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"17302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681011","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":98902,"name":"Amish nemaline myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}