{"code":"C84685","name":"Emery-Dreifuss Muscular Dystrophy","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Emery-Dreifuss Muscular Dystrophy","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"EDMD","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Emery-Dreifuss Muscular Dystrophy","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Emery-Dreifuss Muscular Dystrophy","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0410189"}],"parents":[{"code":"C84910","name":"Muscular Dystrophy"}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12964","relatedName":"Connective and Soft Tissue"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12964","relatedName":"Connective and Soft Tissue"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C13056","relatedName":"Muscle"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C13056","relatedName":"Muscle"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12754","relatedName":"Musculoskeletal System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12754","relatedName":"Musculoskeletal System"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12755","relatedName":"Nervous System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12755","relatedName":"Nervous System"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12465","relatedName":"Peripheral Nervous System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12465","relatedName":"Peripheral Nervous System"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12471","relatedName":"Soft Tissue"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12471","relatedName":"Soft Tissue"}]}