Preferred Name |
Multiple Endocrine Neoplasia Type 2A |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3226 |
ALT_DEFINITION |
A type of multiple endocrine neoplasia characterized by a virtually 100% incidence of medullary thyroid carcinoma, a 50% incidence of pheochromocytoma, and a lesser incidence of parathyroid adenomas associated with hyperparathyroidism. The condition is always transmitted through autosomal dominant inheritance. Genetic testing can identify individuals with the trait in early infancy. Treatment is usually excision of the enlarged parathyroid glands. (From Holland et al., Cancer Medicine, 3d ed, pp1172-75) |
code |
C3226 |
Concept_In_Subset | |
Contributing_Source |
CTRP |
DEFINITION |
Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. |
Display_Name |
Multiple Endocrine Neoplasia Type 2A |
FULL_SYN |
MEN 2A MEA Type 2a Multiple Endocrine Adenomatosis Type II Multiple Endocrine Adenomatosis Type 2A MEA Type II Multiple Endocrine Neoplasia Type II Multiple Endocrine Neoplasia, Type II MEN Type II Multiple Endocrine Adenomatosis, Type II MEN Type 2a |
label |
Multiple Endocrine Neoplasia Type 2A |
Legacy_Concept_Name |
Multiple_Endocrine_Neoplasia_Type_II |
Neoplastic_Status |
Undetermined |
Preferred_Name |
Multiple Endocrine Neoplasia Type 2A |
prefixIRI |
C3226 |
prefLabel |
Multiple Endocrine Neoplasia Type 2A |
Semantic_Type |
Neoplastic Process |
UMLS_CUI |
C0025268 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_0050430 | Human Disease Ontology 123 | LOOM | |
http://purl.bioontology.org/ontology/MESH/D018813 | Medical Subject Headings | LOOM |