National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Multiple Endocrine Neoplasia Type 2B
Synonyms

Multiple Endocrine Neoplasia Type 2b

Multiple Endocrine Neoplasia Type 3

Multiple Endocrine Neoplasia Type III

Multiple Endocrine Neoplasia Type IIB

Multiple Endocrine Neoplasia Type 2B

MEN Type IIB

Multiple Endocrine Neoplasia, Type III

Multiple endocrine neoplasia [MEN] type IIB

Multiple Endocrine Adenomatosis Type IIB

MEN Type 2B

MEN 2B

MEN IIB
Definitions

Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3227
ALT_DEFINITION

Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret (most commonly the M918T mutation). This condition is characterized by an aggressive form of medullary thyroid carcinoma, accompanied by pheochromocytoma, mucosal neuromas, thickened corneal nerves, and Marfanoid habitus in most affected individuals.
code

C3227
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#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193178

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006
Contributing_Source

Cellosaurus

NICHD

mCode
DEFINITION

Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.
FULL_SYN

Multiple Endocrine Neoplasia Type 2b

Multiple Endocrine Neoplasia Type 3

Multiple Endocrine Neoplasia Type III

Multiple Endocrine Neoplasia Type IIB

Multiple Endocrine Neoplasia Type 2B

MEN Type IIB

Multiple Endocrine Neoplasia, Type III

Multiple endocrine neoplasia [MEN] type IIB

Multiple Endocrine Adenomatosis Type IIB

MEN Type 2B

MEN 2B

MEN IIB
label

Multiple Endocrine Neoplasia Type 2B
Legacy Concept Name

Multiple_Endocrine_Neoplasia_Type_III
Neoplastic_Status

Undetermined
Preferred_Name

Multiple Endocrine Neoplasia Type 2B
prefixIRI

Thesaurus:C3227
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18257
Semantic_Type

Neoplastic Process
UMLS_CUI

C0025269
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123329
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http://purl.obolibrary.org/obo/DOID_10016 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008082 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_10016 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10016 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10016 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10016 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10016 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10016 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10016 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C3227 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0018961 OMIT LOOM
http://www.semanticweb.org/hx-jta/ontologies/thyroid_cancer_ontology#Multiple_Endocrine_Neoplasia_Type_2B TCO LOOM
http://purl.jp/bio/4/id/200906079327446268 IOBC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10016 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.344.400.510 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.630.510 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X40Ob RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.630.510 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073151 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Endocrine_Neoplasia_Type_III CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.600.510 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.322.400.510 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_247709 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018814 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008082 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008082 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008082 DOVES LOOM
http://id.nlm.nih.gov/mesh/D018814 MDM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/61530001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D018814 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19539 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_2201053 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038154 PMAPP-PMO LOOM