{"code":"C126747","name":"Lubs X-Linked Intellectual Disability Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Lubs X-Linked Intellectual Disability Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Lubs X-Linked Intellectual Disability Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Lubs X-Linked Mental Retardation Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"MECP2 Duplication Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"MRXSL","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Lubs X-Linked Intellectual Disability Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.","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":"C1846058"}],"parents":[{"code":"C84392","name":"Intellectual Developmental Disorder"},{"code":"C28193","name":"Syndrome"},{"code":"C85865","name":"X-Linked Inherited Disorder"}],"roles":[{"code":"R174","type":"Disease_Mapped_To_Chromosome","relatedCode":"C13285","relatedName":"Human Chromosome X"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C75727","relatedName":"MECP2 Gene"}]}