Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

multiple endocrine neoplasia type 2B
Synonyms
Definitions

An autosomal dominant disease 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].

definition

An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.

hasDbXref

OMIM:162300

NCI:C3227

ICD9CM:258.03

SNOMEDCT_US_2016_03_01:61530001

ICD10CM:E31.23

UMLS_CUI:C0025269

MESH:D018814

ORDO:247709

hasExactSynonym

Wagenmann-Froboese syndrome

multiple endocrine neoplasia type 2b

Multiple endocrine neoplasia, type 3

mucosal neuroma syndrome

MEN2B

MEN type IIB

hasOBONamespace

disease_ontology

id

DOID:10016

imported from

http://purl.obolibrary.org/obo/doid.owl

inSubset

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

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

label

multiple endocrine neoplasia type 2B

prefixIRI

DOID:10016

prefLabel

multiple endocrine neoplasia type 2B

subClassOf

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 DOID 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 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 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