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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_10017
http://purl.obolibrary.org/obo/DOID_10017
|
|---|---|
| Preferred Name | multiple endocrine neoplasia type 1 |
| Definitions |
A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
Wermer syndrome
Wermer's syndrome
MEN type I
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
multiple endocrine neoplasia type 1
|
|---|---|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
multiple endocrine neoplasia type 1
|
| has cross-reference |
ICD9CM:258.01
OMIM:131100
MESH:D018761
UMLS_CUI:C0025267
SNOMEDCT_US_2020_03_01:30664006
ICD10CM:E31.21
GARD:3829
NCI:C3225
ORDO:652
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|
| notation |
DOID:10017
|
| in_subset | |
| id |
DOID:10017
|
| has_obo_namespace |
disease_ontology
|
| textual definition |
A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
|
| subClassOf | |
| imported from | |
| type | |
| has exact synonym |
Wermer syndrome
Wermer's syndrome
MEN type I
|
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