{"orpha":209185,"name":"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)","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-209185/","orphanet_url":"https://www.orpha.net/en/disease/detail/209185","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la chaîne lourde bêta de la myosine (MYH7)"},"de":{"name":"Beta-Myosinschwerkette (MYH7), qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la cadena pesada de la beta-miosina (MYH7)"},"it":{"name":"Alterazioni qualitative o quantitative della catena pesante della beta-miosina (MYH7)"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van bèta-myosine zware keten (MYH7)"},"pt":{"name":"Deficiências qualitativas e quantitativas da cadeia pesada de beta-miosina (MYH7)"},"pl":{"name":"Defekty jakościowe lub ilościowe beta-miozyny łańcuchów ciężkich (MYH7)"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty těžkého řetězce beta-myozinu (MYH7)"},"uk":{"name":"Якісні або кількісні дефекти важкого ланцюга бета-міозину (MYH7)"},"zh":{"name":"β-肌球蛋白重链（MYH7）的定性或定量缺陷"},"tr":{"name":"Beta-miyozin ağır zincirinin (MYH7) kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016195","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680832","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":59135,"name":"Laing distal myopathy","type":"Disease"},{"orpha":53698,"name":"Myosin storage myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}