loading...| Preferred Name | multiple endocrine neoplasia type 2B | |
| Synonyms |
mucosal Neuroma syndrome multiple endocrine neoplasia, type 3 (formerly) multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B Neuromata, mucosal, with endocrine tumours Neuromata, mucosal, with endocrine tumors Wagenmann-Froboese syndrome mucosal neuroma syndrome multiple endocrine neoplasia, type III multiple endocrine neoplasia type 3 men type IIB men type 2B multiple endocrine neoplasia, type 3 multiple endocrine neoplasia type III multiple endocrine neoplasia type IIB multiple endocrine neoplasia IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type 2B MEN2B men 2B men IIB |
|
| 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 |
NANDO:2201053 MESH:D018814 UMLS:C0025269 icd11.foundation:1754393919 MEDGEN:9959 OMIM:162300 SCTID:61530001 Orphanet:247709 MedDRA:10056420 ICD9:258.03 DOID:10016 GARD:10225 ICD9:237.4 NCIT:C3227 |
|
| 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 mucosal neuroma syndrome multiple endocrine neoplasia, type III multiple endocrine neoplasia type 3 men type IIB men type 2B multiple endocrine neoplasia, type 3 multiple endocrine neoplasia type III multiple endocrine neoplasia type IIB multiple endocrine neoplasia IIB multiple endocrine adenomatosis type IIB multiple endocrine neoplasia type 2B MEN2B men 2B men IIB |
|
| has_related_synonym |
mucosal Neuroma syndrome multiple endocrine neoplasia, type 3 (formerly) multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia, type 2B Neuromata, mucosal, with endocrine tumours Neuromata, mucosal, with endocrine tumors |
|
| IAO_0000233 | ||
| id |
MONDO:0008082 |
|
| 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 2B |
|
| notation |
MONDO:0008082 |
|
| preferred label |
multiple endocrine neoplasia type 2B |
|
| prefLabel |
multiple endocrine neoplasia type 2B |
|
| see also |
https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b |
|
| 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 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 |