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