Human Disease Ontology

Last uploaded: November 27, 2024
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Preferred Name

multiple endocrine neoplasia type 2A
Synonyms

Sipple syndrome

multiple endocrine neoplasia II

MEN2A
Definitions

A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0050430
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD9CM:258.02

UMLS_CUI:C0025268

SNOMEDCT_US_2023_03_01:721188000

ICD10CM:E31.22

ORDO:247698

MESH:D018813

MIM:171400

NCI:C3226
definition

A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
has exact synonym

Sipple syndrome

multiple endocrine neoplasia II

MEN2A
has material basis in

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

disease_ontology
id

DOID:0050430
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 2A
notation

DOID:0050430
prefLabel

multiple endocrine neoplasia type 2A
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_0050430 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050430 FNS-H SAME_URI
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 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 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