{"code":"C84987","name":"Pallister-Hall Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Pallister-Hall Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Ano-cerebro-digital Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hypothalamic Hamartoblastoma Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Pallister-Hall Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Pallister-Hall Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A syndrome caused by dominant negative mutations in the GLI3 gene, encoding the transcriptional activator GLI3. The condition is characterized by a spectrum of clinical features including hypothalamic hamartoma, hypopituitarism, bifid epiglottis, laryngotracheal cleft, polydactyly, and cutaneous syndactyly.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0265220"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18452","relatedName":"GLI3 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}