Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Multiple Endocrine Neoplasia Type 2A
Synonyms
Definitions

Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.
ID

http://purl.obolibrary.org/obo/NCIT_C3226
ALT_DEFINITION

Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret. This condition is characterized by medullary thyroid carcinoma, accompanied in some cases by pheochromocytoma and parathyroid gland hyperplasia or adenoma.
code

C3226
Contributing_Source

Cellosaurus

CTRP

NICHD
definition

Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.
Display_Name

Multiple Endocrine Neoplasia Type 2A
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168
label

Multiple Endocrine Neoplasia Type 2A
Legacy Concept Name

Multiple_Endocrine_Neoplasia_Type_II
Neoplastic_Status

Undetermined
Preferred_Name

Multiple Endocrine Neoplasia Type 2A
prefixIRI

NCIT:C3226
prefLabel

Multiple Endocrine Neoplasia Type 2A
Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C18257
Semantic_Type

Neoplastic Process
UMLS_CUI

C0025268
subClassOf

http://purl.obolibrary.org/obo/NCIT_C123329
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http://purl.obolibrary.org/obo/MONDO_0008234 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.630.505 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0018960 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3226 NCIT LOOM
http://www.semanticweb.org/hx-jta/ontologies/thyroid_cancer_ontology#Multiple_Endocrine_Neoplasia_Type_2A TCO LOOM
http://www.orpha.net/ORDO/Orphanet_247698 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/721188000 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018813 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050430 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050430 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050430 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050430 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050430 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.630.505 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Endocrine_Neoplasia_Type_II CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050430 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.322.400.505 RH-MESH LOOM
http://purl.jp/bio/4/id/200906076458925944 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073148 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D018813 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19538 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.344.400.505 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2201052 NANDO LOOM
http://id.nlm.nih.gov/mesh/D018813 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008234 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.600.505 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038153 PMAPP-PMO LOOM