{"code":"C120191","name":"Complete Androgen Insensitivity Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Complete androgen insensitivity syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"CAIS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Complete Androgen Insensitivity Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Complete Androgen Insensitivity Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A genetic disorder associate with a mutation in the AR gene, resulting in the complete resistance to androgenic hormones.","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":"C0936016"}],"parents":[{"code":"C27226","name":"Androgen Insensitivity Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C28539","relatedName":"AR Gene"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12704","relatedName":"Endocrine Gland"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12705","relatedName":"Endocrine System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12705","relatedName":"Endocrine System"}]}