loading...| Preferred Name | multiple endocrine neoplasia type 2A | |
| Synonyms |
thyroid carcinoma, familial medullary multiple endocrine neoplasia, type IIA multiple endocrine neoplasia, type 2A pheochromocytoma and amyloid producing medullary thyroid carcinoma men-2A syndrome pheochromocytoma and amyloid-producing medullary thyroid carcinoma multiple endocrine neoplasia II multiple endocrine adenomatosis, type II MEA type II men type 2a multiple endocrine adenomatosis type II multiple endocrine neoplasia, type II ptc syndrome MEA type 2a multiple endocrine neoplasia type II Sipple syndrome multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2a men type II multiple endocrine neoplasia type 2A multiple endocrine neoplasia IIA MEN2A men 2A |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008234 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008234 |
|
| database_cross_reference |
Orphanet:247698 NANDO:2200406 NANDO:2201052 UMLS:C0025268 DOID:0050430 SCTID:721188000 MEDGEN:9958 OMIM:171400 icd11.foundation:1689268035 ICD9:258.02 MESH:D018813 GARD:4881 NCIT:C3226 |
|
| definition |
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. |
|
| has_exact_synonym |
multiple endocrine neoplasia II multiple endocrine adenomatosis, type II MEA type II men type 2a multiple endocrine adenomatosis type II multiple endocrine neoplasia, type II ptc syndrome MEA type 2a multiple endocrine neoplasia type II Sipple syndrome multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2a men type II multiple endocrine neoplasia type 2A multiple endocrine neoplasia IIA MEN2A men 2A |
|
| has_related_synonym |
thyroid carcinoma, familial medullary multiple endocrine neoplasia, type IIA multiple endocrine neoplasia, type 2A pheochromocytoma and amyloid producing medullary thyroid carcinoma men-2A syndrome pheochromocytoma and amyloid-producing medullary thyroid carcinoma |
|
| IAO_0000233 | ||
| id |
MONDO:0008234 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
multiple endocrine neoplasia type 2A |
|
| notation |
MONDO:0008234 |
|
| preferred label |
multiple endocrine neoplasia type 2A |
|
| prefLabel |
multiple endocrine neoplasia type 2A |
|
| see also |
https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C3226 http://identifiers.org/snomedct/721188000 http://linkedlifedata.com/resource/umls/id/C0025268 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1689268035 http://identifiers.org/mesh/D018813 http://purl.obolibrary.org/obo/DOID_0050430 |
|
| subClassOf |