{"code":"C129872","name":"Pitt-Hopkins Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Pitt-Hopkins Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Pitt-Hopkins Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PTHS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Pitt-Hopkins Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures.","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":"C1970431"}],"parents":[{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C105956","relatedName":"TCF4 Gene"}]}