{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","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-207049/","orphanet_url":"https://www.orpha.net/en/disease/detail/207049","names":{"fr":{"name":"Anomalie qualitative ou quantitative des protéines dans les maladies neuromusculaires"},"de":{"name":"Qualitative oder quantitative Protein-Defekte bei Neuromuskulären Krankheiten"},"es":{"name":"Anomalías cualitativas o cuantitativas de proteínas en enfermedades neuromusculares"},"it":{"name":"Alterazioni quantitative o qualitative delle proteine nelle malattie neuromuscolari"},"nl":{"name":"Kwalitatieve of kwantitatieve eiwitdefecten bij neuromusculaire aandoeningen"},"pt":{"name":"Deficiências qualitativas ou quantitativas proteicas em doenças neuromusculares"},"pl":{"name":"Defekt jakościowy lub ilościowy białek w chorobie nerwowo-mięśniowej"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinů u nervosvalových chorob"},"uk":{"name":"Якісні або кількісні білкові дефекти при нервово-мязових захворюваннях"},"zh":{"name":"神经肌肉疾病中的定性或定量蛋白质缺陷"},"tr":{"name":"Nöromüsküler hastalıklarda kalitatif veya kantitatif protein defekt"}},"xrefs":[{"source":"MONDO","code":"0016139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16139","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183497,"name":"Genetic neuromuscular disease","classifications":[156]}],"children":[{"orpha":207094,"name":"Laminin subunit alpha 2-related muscular dystrophy","type":"Category"},{"orpha":209224,"name":"Myotilinopathy","type":"Category"},{"orpha":207107,"name":"Qualitative or quantitative defects of TRIM32","type":"Category"},{"orpha":424925,"name":"Qualitative or quantitative defects of Torsin-1A-interacting protein 1","type":"Category"},{"orpha":209059,"name":"Qualitative or quantitative defects of alpha-actin","type":"Category"},{"orpha":371024,"name":"Qualitative or quantitative defects of alpha-dystroglycan","type":"Category"},{"orpha":209185,"name":"Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)","type":"Category"},{"orpha":207104,"name":"Qualitative or quantitative defects of calpain","type":"Category"},{"orpha":207078,"name":"Qualitative or quantitative defects of caveolin-3","type":"Category"},{"orpha":207090,"name":"Qualitative or quantitative defects of collagen 6","type":"Category"},{"orpha":207073,"name":"Qualitative or quantitative defects of dysferlin","type":"Category"},{"orpha":207085,"name":"Qualitative or quantitative defects of dystrophin","type":"Category"},{"orpha":209188,"name":"Qualitative or quantitative defects of emerin","type":"Category"},{"orpha":209203,"name":"Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -","type":"Category"},{"orpha":207098,"name":"Qualitative or quantitative defects of integrin alpha-7","type":"Category"},{"orpha":209038,"name":"Qualitative or quantitative defects of myofibrillar proteins","type":"Category"},{"orpha":207110,"name":"Qualitative or quantitative defects of myotubularin","type":"Category"},{"orpha":209182,"name":"Qualitative or quantitative defects of nebulin","type":"Category"},{"orpha":207101,"name":"Qualitative or quantitative defects of perlecan","type":"Category"},{"orpha":209196,"name":"Qualitative or quantitative defects of plectin","type":"Category"},{"orpha":209199,"name":"Qualitative or quantitative defects of protein SERCA1","type":"Category"},{"orpha":207052,"name":"Qualitative or quantitative defects of sarcoglycan","type":"Category"},{"orpha":209193,"name":"Qualitative or quantitative defects of selenoprotein N1","type":"Category"},{"orpha":209056,"name":"Qualitative or quantitative defects of telethonin","type":"Category"},{"orpha":209053,"name":"Qualitative or quantitative defects of titin","type":"Category"},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","type":"Category"},{"orpha":284786,"name":"Qualitative or quantitative defects of troponin","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}