{"code":"C185242","name":"Otosclerosis","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Otosclerosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Localized Bone Dysplasia","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Otosclerosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Otosclerosis","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A usually autosomal dominant inherited metabolic disorder affecting the bony labyrinth of the inner ear. Morphologically, it is characterized by the presence of sharply demarcated active (otospongiotic) and inactive (sclerotic) bony areas. It is one of the most common causes of conductive hearing loss.","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":"C0029899"}],"parents":[{"code":"C193409","name":"Labyrinth Disorder"}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12394","relatedName":"Ear"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12394","relatedName":"Ear"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12418","relatedName":"Head and Neck"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12418","relatedName":"Head and Neck"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12499","relatedName":"Inner Ear"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12499","relatedName":"Inner Ear"}]}