Mondo Disease Ontology - multiple endocrine neoplasia type 1 - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0007540 http://purl.obolibrary.org/obo/MONDO_0007540
Preferred Name	multiple endocrine neoplasia type 1
Definitions	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Synonyms	MEA 1 endocrine adenomatosis multiple multiple endocrine neoplasia, type 1 MEN1 somatic mutations endocrine adenomatosis, multiple multiple endocrine adenomatosis Wermer's syndrome multiple endocrine adenomatosis, type I multiple endocrine neoplasia caused by mutation in MEN1 multiple endocrine neoplasia, type I multiple endocrine adenomatosis type 1 MEA type 1 MEA type I men 1 multiple endocrine neoplasia type I MEN1 syndrome MEN1 multiple endocrine neoplasia 1 men type I multiple endocrine neoplasia type 1 Wermer syndrome multiple endocrine adenomatosis type I men type 1 MEN1 multiple endocrine neoplasia multiple endocrine neoplasia type 1 syndrome See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
label	multiple endocrine neoplasia type 1
prefLabel	multiple endocrine neoplasia type 1
database_cross_reference	DOID:10017 ICD9:258.01 MESH:D018761 UMLS:C0025267 Orphanet:652 MEDGEN:9957 ICD9:237.4 SCTID:30664006 MedDRA:10028190 NCIT:C3225 NANDO:2200405 OMIM:131100 icd11.foundation:1638765741 GARD:3829 NORD:1466 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
notation	MONDO:0007540
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
has_related_synonym	MEA 1 endocrine adenomatosis multiple multiple endocrine neoplasia, type 1 MEN1 somatic mutations endocrine adenomatosis, multiple
id	MONDO:0007540
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_10017 http://purl.obolibrary.org/obo/NCIT_C3225 http://linkedlifedata.com/resource/umls/id/C0025267 http://identifiers.org/mesh/D018761 http://purl.obolibrary.org/obo/Orphanet_652 https://omim.org/entry/131100 http://identifiers.org/snomedct/30664006 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1638765741 http://identifiers.org/medgen/9957 See more See less
seeAlso	https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017169 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0016365 http://purl.obolibrary.org/obo/MONDO_0021227
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0007540
skos_closeMatch	http://identifiers.org/meddra/10028190
type	http://www.w3.org/2002/07/owl#Class
has_broad_synonym	multiple endocrine adenomatosis
has_exact_synonym	Wermer's syndrome multiple endocrine adenomatosis, type I multiple endocrine neoplasia caused by mutation in MEN1 multiple endocrine neoplasia, type I multiple endocrine adenomatosis type 1 MEA type 1 MEA type I men 1 multiple endocrine neoplasia type I MEN1 syndrome MEN1 multiple endocrine neoplasia 1 men type I multiple endocrine neoplasia type 1 Wermer syndrome multiple endocrine adenomatosis type I men type 1 MEN1 multiple endocrine neoplasia multiple endocrine neoplasia type 1 syndrome See more See less
treeView	http://purl.obolibrary.org/obo/MONDO_0017169 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0016365 http://purl.obolibrary.org/obo/MONDO_0021227

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