Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

multiple endocrine neoplasia type 2B
Synonyms

Wagenmann-Froboese syndrome

Multiple endocrine neoplasia, type 3

MEN2B

MEN type IIB

mucosal neuroma syndrome
Definitions

A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_10016
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD9CM:258.03

MESH:D018814

SNOMEDCT_US_2023_03_01:61530001

ICD10CM:E31.23

UMLS_CUI:C0025269

ORDO:247709

MIM:162300

NCI:C3227
definition

A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
has exact synonym

Wagenmann-Froboese syndrome

Multiple endocrine neoplasia, type 3

MEN2B

MEN type IIB

mucosal neuroma syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:10016
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

multiple endocrine neoplasia type 2B
notation

DOID:10016
prefLabel

multiple endocrine neoplasia type 2B
subClassOf

http://purl.obolibrary.org/obo/DOID_3125

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10016 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_10016 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_10016 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_10016 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_10016 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_10016 FNS-H SAME_URI
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 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3227 NCIT 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 MONDO 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
http://www.gamuts.net/entity#mucosal_neuroma_syndrome GAMUTS REST