Preferred Label : Multiple Endocrine Neoplasia Type 2B;
NCIt synonyms : Multiple Endocrine Neoplasia Type III; MEN 2B; Multiple Endocrine Neoplasia Type IIB; MEN Type 2B; MEN Type IIB; MEN IIB; Multiple Endocrine Adenomatosis Type IIB; Multiple Endocrine Neoplasia, Type III; Multiple Endocrine Neoplasia Type 3;
NCIt related terms : Multiple endocrine neoplasia [MEN] type IIB;
NCIt definition : Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop
medullary thyroid carcinomas and numerous neural defects including neuromas.;
Alternative definition : NICHD: Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene,
encoding proto-oncogene tyrosine-protein kinase receptor Ret (most commonly the M918T
mutation). This condition is characterized by an aggressive form of medullary thyroid
carcinoma, accompanied by pheochromocytoma, mucosal neuromas, thickened corneal nerves,
and Marfanoid habitus in most affected individuals.;