{"code":"C205644","name":"Nicolaides-Baraitser Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Nicolaides-Baraitser Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"NCBRS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Nicolaides-Baraitser Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Nicolaides-Baraitser Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2. It is characterized by severe intellectual disability, early-onset seizures, and facial dysmorphia.","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":"C1303073"}],"parents":[{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C19879","relatedName":"SMARCA2 Gene"}]}