{"code":"C84745","name":"Hajdu-Cheney Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Hajdu-Cheney Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hajdu-Cheney Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0917715"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C97677","relatedName":"NOTCH2 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}