Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Multiple endocrine neoplasia type 1
Synonyms

MEN1

Wermer syndrome

Definitions

A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

ID

http://www.orpha.net/ORDO/Orphanet_652

alternative_term

MEN1

Wermer syndrome

definition

A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=652

has_age_of_onset

All ages

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

UMLS:C0025267

OMIM:131100

ICD-11:2F7A.0

ICD-10:D44.8

MedDRA:10028190

MeSH:D018761

label

Multiple endocrine neoplasia type 1

notation

ORPHA:652

part_of

http://www.orpha.net/ORDO/Orphanet_276161

http://www.orpha.net/ORDO/Orphanet_100091

http://www.orpha.net/ORDO/Orphanet_425003

http://www.orpha.net/ORDO/Orphanet_2207

http://www.orpha.net/ORDO/Orphanet_314749

prefixIRI

ORDO:Orphanet_652

prefLabel

Multiple endocrine neoplasia type 1

present_in

Europe AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_276161

http://www.orpha.net/ORDO/Orphanet_100091

http://www.orpha.net/ORDO/Orphanet_425003

http://www.orpha.net/ORDO/Orphanet_2207

http://www.orpha.net/ORDO/Orphanet_314749

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_652 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_652 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_652 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007540 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_10017 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10017 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10017 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10017 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10017 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10017 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_10017 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10017 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C3225 BERO LOOM
http://id.nlm.nih.gov/mesh/D018761 MDM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10017 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073150 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0018918 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.344.400.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30664006 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.322.400.500 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Multiple_Endocrine_Neoplasia_Type_I CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_121 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.630.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.630.500 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200405 NANDO LOOM
http://purl.bioontology.org/ontology/MESH/D018761 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3225 NCIT LOOM
http://purl.bioontology.org/ontology/SNMI/DB-02110 SNMI LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000654711 PDQ LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018761 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.600.500 RH-MESH LOOM
http://purl.jp/bio/4/id/200906089261221796 IOBC LOOM
http://purl.obolibrary.org/obo/MONDO_0007540 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007540 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007540 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007540 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007540 DOVES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038152 PMAPP-PMO LOOM
http://www.gamuts.net/entity#multiple_endocrine_neoplasia_syndrome_type_1 GAMUTS REST