loading...| Preferred Name | multiple endocrine neoplasia type 2B | |
| Synonyms |
Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type 3 (formerly) Neuromata, mucosal, with endocrine tumours Wagenmann-Froboese syndrome multiple endocrine neoplasia type 3 multiple endocrine neoplasia IIB men type IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type III men IIB multiple endocrine neoplasia type 2B men 2B men type 2B mucosal neuroma syndrome multiple endocrine neoplasia, type 3 MEN2B multiple endocrine neoplasia type IIB multiple endocrine neoplasia, type III |
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| Definitions |
Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008082 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008082 |
|
| database_cross_reference |
OMIM:162300 icd11.foundation:1754393919 ICD9:237.4 NANDO:2201053 Orphanet:247709 UMLS:C0025269 DOID:10016 SCTID:61530001 MEDGEN:9959 GARD:10225 MedDRA:10056420 ICD9:258.03 NCIT:C3227 MESH:D018814 |
|
| definition |
Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. |
|
| has_exact_synonym |
Wagenmann-Froboese syndrome multiple endocrine neoplasia type 3 multiple endocrine neoplasia IIB men type IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type III men IIB multiple endocrine neoplasia type 2B men 2B men type 2B mucosal neuroma syndrome multiple endocrine neoplasia, type 3 MEN2B multiple endocrine neoplasia type IIB multiple endocrine neoplasia, type III |
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| has_related_synonym |
Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type 3 (formerly) Neuromata, mucosal, with endocrine tumours |
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| IAO_0000233 | ||
| id |
MONDO:0008082 |
|
| 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 2B |
|
| notation |
MONDO:0008082 |
|
| prefLabel |
multiple endocrine neoplasia type 2B |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_10016 http://purl.obolibrary.org/obo/NCIT_C3227 http://linkedlifedata.com/resource/umls/id/C0025269 http://identifiers.org/mesh/D018814 http://identifiers.org/snomedct/61530001 http://purl.obolibrary.org/obo/Orphanet_247709 http://identifiers.org/medgen/9959 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1754393919 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0000426 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 |