Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	multiple endocrine neoplasia type 2A
Synonyms	thyroid carcinoma, familial medullary men-2A syndrome pheochromocytoma and amyloid producing medullary thyroid carcinoma multiple endocrine neoplasia, type IIA multiple endocrine neoplasia, type 2A pheochromocytoma and amyloid-producing medullary thyroid carcinoma ptc syndrome multiple endocrine neoplasia II multiple endocrine neoplasia IIA men type II MEN2A multiple endocrine neoplasia type 2A men 2A multiple endocrine neoplasia, type II men type 2a multiple endocrine adenomatosis type 2a Sipple syndrome multiple endocrine adenomatosis, type II multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type II MEA type 2a multiple endocrine neoplasia type II MEA type II
Definitions	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.
ID	http://purl.obolibrary.org/obo/MONDO_0008234
altLabel	thyroid carcinoma, familial medullary men-2A syndrome pheochromocytoma and amyloid producing medullary thyroid carcinoma multiple endocrine neoplasia, type IIA multiple endocrine neoplasia, type 2A pheochromocytoma and amyloid-producing medullary thyroid carcinoma ptc syndrome multiple endocrine neoplasia II multiple endocrine neoplasia IIA men type II MEN2A multiple endocrine neoplasia type 2A men 2A multiple endocrine neoplasia, type II men type 2a multiple endocrine adenomatosis type 2a Sipple syndrome multiple endocrine adenomatosis, type II multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type II MEA type 2a multiple endocrine neoplasia type II MEA type II
definition	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.
has_exact_synonym	ptc syndrome multiple endocrine neoplasia II multiple endocrine neoplasia IIA men type II MEN2A multiple endocrine neoplasia type 2A men 2A multiple endocrine neoplasia, type II men type 2a multiple endocrine adenomatosis type 2a Sipple syndrome multiple endocrine adenomatosis, type II multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type II MEA type 2a multiple endocrine neoplasia type II MEA type II
has_related_synonym	thyroid carcinoma, familial medullary men-2A syndrome pheochromocytoma and amyloid producing medullary thyroid carcinoma multiple endocrine neoplasia, type IIA multiple endocrine neoplasia, type 2A pheochromocytoma and amyloid-producing medullary thyroid carcinoma
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
label	multiple endocrine neoplasia type 2A
prefixIRI	MONDO:0008234
prefLabel	multiple endocrine neoplasia type 2A
seeAlso	https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a
textual definition	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0019003

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008234	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008234	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008234	EFO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430	DOID	LOOM
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/NCIT_C3226	BERO	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://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