{"code":"C179710","name":"Myoclonic Epilepsy of Unverricht and Lundborg","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Myoclonic Epilepsy of Unverricht and Lundborg","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Epilepsy, Progressive, Myoclonic 1A","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"EPM1A","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Myoclonic Epilepsy of Unverricht and Lundborg","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"ULD","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Unverricht-Lundborg Disease","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Myoclonic Epilepsy of Unverricht and Lundborg","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age.","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":"C0751785"}],"parents":[{"code":"C7636","name":"Progressive Myoclonus Epilepsy"}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12439","relatedName":"Brain"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12439","relatedName":"Brain"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12438","relatedName":"Central Nervous System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12438","relatedName":"Central Nervous System"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C128870","relatedName":"CSTB Gene"},{"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"}]}