loading...| Preferred Name | Multiple Endocrine Neoplasia Type 2A | |
| Synonyms |
Multiple Endocrine Adenomatosis, Type II Multiple Endocrine Neoplasia, Type II MEA Type II Multiple Endocrine Adenomatosis Type 2A Multiple Endocrine Adenomatosis Type 2a MEA Type 2a Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type II MEN Type II Multiple Endocrine Adenomatosis Type II Multiple endocrine neoplasia [MEN] type IIA Multiple Endocrine Neoplasia Type 2A MEN Type 2a MEN 2A |
|
| Definitions |
Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3226 |
|
| ALT_DEFINITION |
Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret. This condition is characterized by medullary thyroid carcinoma, accompanied in some cases by pheochromocytoma and parathyroid gland hyperplasia or adenoma. |
|
| code |
C3226 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
|
| Contributing_Source |
Cellosaurus CTRP NICHD mCode |
|
| 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 |
Multiple Endocrine Adenomatosis, Type II Multiple Endocrine Neoplasia, Type II MEA Type II Multiple Endocrine Adenomatosis Type 2A Multiple Endocrine Adenomatosis Type 2a MEA Type 2a Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type II MEN Type II Multiple Endocrine Adenomatosis Type II Multiple endocrine neoplasia [MEN] type IIA Multiple Endocrine Neoplasia Type 2A MEN Type 2a MEN 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 |
Thesaurus:C3226 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Neoplastic Process |
|
| UMLS_CUI |
C0025268 |
|
| subClassOf |