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multiple endocrine neoplasia type 2A

Disease Summary
Associated Targets (13)
Tbio

10

Tclin

2

Tchem

1


GARD Rare
Mondo Description Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.
Uniprot Description The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.
Disease Ontology Description An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Mondo Term and Equivalent IDs
MONDO:0008234:  multiple endocrine neoplasia type 2A
GARD:0004881: 
MESH:D018813: 
NCIT:C3226: 
Orphanet:247698: 
SCTID:721188000: 
UMLS:C0025268: