{"orpha":476403,"name":"Hypercontractile muscle stiffness syndrome","type":"Clinical group","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-476403/","orphanet_url":"https://www.orpha.net/en/disease/detail/476403","names":{"fr":{"name":"Syndrome de rigidité musculaire hypercontractile"},"de":{"name":"Hyperkontraktile Muskelsteifheit-Syndrom"},"es":{"name":"Síndrome de rigidez muscular hipercontráctil"},"it":{"name":"Sindrome ipoercontratile da rigidità muscolare"},"nl":{"name":"Hypercontractiele spierstijfheid-syndroom"},"pt":{"name":"Síndrome de rigidez muscular hipercontrátil"},"pl":{"name":"Zespół sztywności mięśniowej z hiperkurczliwością"},"cs":{"name":"Syndrom hyperkontraktilní svalové ztuhlosti"},"uk":{"name":"Синдром гіперскоротливої ригідності мязів"},"zh":{"name":"肌肉收缩高度僵直综合征"},"tr":{"name":"Hiperkontraktil kas sertliği sendromu"}},"xrefs":[{"source":"MONDO","code":"18779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681263","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]}],"children":[{"orpha":476406,"name":"Congenital generalized hypercontractile muscle stiffness syndrome","type":"Disease"},{"orpha":280553,"name":"Fatal infantile hypertonic myofibrillar myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}