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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 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Men1 multiple endocrine neoplasia 1 no_association
disease_progression
ISO
IMP
IEA
DNA:mutations:multiple sites:
DNA:mutations, polymorphism:exons
DNA:deletions:exons
associated with Pituitary Neoplasm; DNA:mutations: :multiple
DNA:deletion:exons
DNA, protein:mutations, loss of heterozygosity, decreased expression: :
CTD Direct Evidence: marker/mechanism
OMIM:131100
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:215689 PMID:564891 PMID:2857681 PMID:6108714 PMID:9103196 More... RGD:1601327, RGD:2317347, RGD:1601326, RGD:2317327, RGD:2317303, RGD:2317331, RGD:2317313, RGD:619590, RGD:2317293, RGD:2317314, RGD:2317335, RGD:2317334, RGD:1581203 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    syndrome 9183
      Hereditary Neoplastic Syndromes 1050
        multiple endocrine neoplasia 10
          multiple endocrine neoplasia type 1 3
Path 2
Term Annotations click to browse term
  disease 15283
    Developmental Disease 12305
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11014
        genetic disease 10547
          monogenic disease 8575
            autosomal genetic disease 7602
              autosomal dominant disease 5137
                multiple endocrine neoplasia type 1 3
paths to the root