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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:multiple endocrine neoplasia type 1
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Accession:DOID:10017 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MEA 1;   MEA I;   MEN 1;   MEN I;   MEN type I;   MEN1;   Wermer syndrome;   Wermer's syndrome;   multiple endocrine neoplasia type I;   multiple endocrine neoplasms type 1;   multiple endocrine neoplasms type I
 narrow_synonym: Wermer syndrome MEN1 somatic mutations
 primary_id: MESH:D018761
 alt_id: OMIM:131100
 xref: GARD:3829;   ICD10CM:E31.21;   ICD9CM:258.01;   NCI:C3225;   ORDO:652
For additional species annotation, visit the Alliance of Genome Resources.



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multiple endocrine neoplasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:plasma RGD PMID:8098714 RGD:2317763 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Men1 menin 1 no_association
disease_progression
ISO
IDA
DNA:mutations:multiple sites:
DNA:mutations, polymorphism:exons
associated with Pituitary Neoplasm; DNA:mutations: :multiple
DNA:deletions:exons
DNA:deletion:exons
DNA, protein:mutations, loss of heterozygosity, decreased expression: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1
OMIM
CTD
ClinVar
RGD
PMID:215689 PMID:564891 PMID:2857681 PMID:6108714 PMID:9103196 More... RGD:2317347, RGD:1601327, RGD:1601326, RGD:2317327, RGD:2317303, RGD:2317313, RGD:2317331, RGD:619590, RGD:2317293, RGD:2317314, RGD:2317334, RGD:2317335, RGD:1581203 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Hereditary Neoplastic Syndromes 1015
        multiple endocrine neoplasia 12
          multiple endocrine neoplasia type 1 3
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                multiple endocrine neoplasia type 1 3
paths to the root