multiple endocrine neoplasia type 2B
An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0006295
malignant urinary system neoplasm
is_a
MONDO:0019003
multiple endocrine neoplasia type 2
is_a
MEN2B
exact
Neuromata, mucosal, with endocrine tumours
related
RET-related multiple endocrine neoplasia type 2B
exact
Wagenmann-Froboese syndrome
exact
men 2B
exact
men IIB
exact
men type 2B
exact
men type IIB
exact
multiple endocrine adenomatosis type IIB
exact
multiple endocrine neoplasia IIB
exact
multiple endocrine neoplasia type 2B
exact
multiple endocrine neoplasia type 3
exact
multiple endocrine neoplasia type IIB
exact
multiple endocrine neoplasia type III
exact
multiple endocrine neoplasia, type 3 (formerly)
related
multiple endocrine neoplasia, type IIB
related
multiple endocrine neoplasia, type III
exact