{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","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-284790/","orphanet_url":"https://www.orpha.net/en/disease/detail/284790","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la tropomyosine"},"de":{"name":"Tropomyosin, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la tropomiosina"},"it":{"name":"Difetti qualitativi o quantitativi della tropomiosina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van tropomyosine"},"pt":{"name":"Deficiência qualitativa ou quantitativa da tropomiosina"},"pl":{"name":"Jakościowe lub ilościowe defekty tropomiozyny"},"cs":{"name":"Kvantitativní nebo kvalitativní defekty tropomyosinu"},"uk":{"name":"Якісні або кількісні дефекти тропоміозину"},"zh":{"name":"原肌球蛋白的定性或定量缺陷"},"tr":{"name":"Tropomiyosinin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"0017303","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681012","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":171881,"name":"Cap myopathy","type":"Disease"},{"orpha":171439,"name":"Childhood-onset nemaline myopathy","type":"Disease"},{"orpha":2020,"name":"Congenital fiber-type disproportion myopathy","type":"Disease"},{"orpha":476406,"name":"Congenital generalized hypercontractile muscle stiffness syndrome","type":"Disease"},{"orpha":171433,"name":"Intermediate nemaline myopathy","type":"Disease"},{"orpha":171436,"name":"Typical nemaline myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}