{"code":"C123329","name":"Multiple Endocrine Neoplasia Type 2","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Multiple Endocrine Neoplasia Type 2","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CCPS"},{"name":"Multiple Endocrine Neoplasia Type 2","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Multiple Endocrine Neoplasia Type 2","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Multiple Endocrine Neoplasia Type 2","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CCPS"},{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"type":"Logical_Definition","value":"true"},{"code":"P363","type":"Neoplastic_Status","value":"Undetermined"},{"code":"P106","type":"Semantic_Type","value":"Neoplastic Process"},{"code":"P207","type":"UMLS_CUI","value":"C4048306"}],"parents":[{"code":"C6432","name":"Multiple Endocrine Neoplasia","defining":true}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12704","relatedName":"Endocrine Gland"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12704","relatedName":"Endocrine Gland"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12705","relatedName":"Endocrine System"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C46099","relatedName":"Hereditary Thyroid Gland Medullary Carcinoma"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C46099","relatedName":"Hereditary Thyroid Gland Medullary Carcinoma","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C36180","relatedName":"Multifocal Lesion"},{"code":"R105","type":"Disease_Has_Abnormal_Cell","relatedCode":"C12922","relatedName":"Neoplastic Cell"},{"code":"R106","type":"Disease_Has_Molecular_Abnormality","relatedCode":"C43293","relatedName":"RET Gene Mutation"},{"code":"R106","type":"Disease_Has_Molecular_Abnormality","relatedCode":"C43293","relatedName":"RET Gene Mutation","group":"Molecular Abnormality"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18257","relatedName":"RET Gene"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18257","relatedName":"RET Gene","group":"Gene"},{"code":"R138","type":"Disease_Excludes_Normal_Cell_Origin","relatedCode":"C33783","relatedName":"Thyroid Gland Follicular Cell"}]}