{"code":"C35256","name":"Aicardi Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Aicardi Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Aicardi Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae.  It is associated with the presence of choroid plexus neoplasms in the brain.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P366","type":"Legacy Concept Name","value":"Aicardi_Syndrome"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0175713"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"},{"code":"C85865","name":"X-Linked Inherited Disorder"}],"roles":[{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C3698","relatedName":"Choroid Plexus Papilloma"},{"code":"R174","type":"Disease_Mapped_To_Chromosome","relatedCode":"C13285","relatedName":"Human Chromosome X"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}