Experimental Factor Ontology

Last uploaded: November 18, 2024

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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
closeMatch	http://identifiers.org/meddra/10056420
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.
exactMatch	http://purl.obolibrary.org/obo/DOID_10016 http://purl.obolibrary.org/obo/NCIT_C3227 https://omim.org/entry/162300 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
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	https://github.com/monarch-initiative/mondo/issues/4521
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 http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
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
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019003 http://www.ebi.ac.uk/efo/EFO_1000363

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008082	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008082	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008082	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008082	DOVES	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	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://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	MONDO	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