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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
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Accession:DOID:3125 term browser browse the term
Definition:A syndrome that is characterized by tumors in at least two endocrine glands. (DO)
Synonyms:exact_synonym: Multiple endocrine neoplasia syndrome;   familial endocrine adenomatoses;   familial endocrine adenomatosis;   multiple endocrine adenomatoses;   multiple endocrine adenomatosis;   multiple endocrine adenopathies;   multiple endocrine adenopathy;   multiple endocrine neoplasia syndromes;   multiple endocrine neoplasms
 primary_id: MESH:D009377
 xref: OMIM:PS131100
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
multiple endocrine neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B susceptibility IAGP
ISO
DNA, protein:frameshift mutation, decreased expression
ClinVar Annotator: match by term: Multiple endocrine neoplasia
ClinVar
RGD
PMID:28492532 PMID:17030811 PMID:12036912 PMID:17030811 RGD:2293616, RGD:619590, RGD:2293616 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 PMID:12036912 RGD:2293616, RGD:619590
G Ghrl ghrelin and obestatin prepropeptide IEP protein:increased expression:pancreas,serum: RGD PMID:26512025 RGD:12904888 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP RGD PMID:26512025 RGD:12904888 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia ClinVar PMID:9103196 PMID:9215689 PMID:9215690 PMID:9354421 PMID:9407947 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia
CTD
ClinVar
PMID:2639553 PMID:2660074 PMID:3078962 PMID:7536460 PMID:7581377 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD
ClinVar
OMIM
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link
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 Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
JBrowse link
G Men1 menin 1 no_association
disease_progression
ISO
IDA
ISS
DNA:mutations:multiple sites:
ClinVar Annotator: match by term: MEN1-related condition | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1
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
OMIM:131100
ClinVar
OMIM
CTD
MouseDO
RGD
PMID:103196 PMID:564891 PMID:2857681 PMID:6108714 PMID:6837595 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
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
multiple endocrine neoplasia type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a ClinVar PMID:24694336 PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Ret ret proto-oncogene ISO DNA:mutation:cds (human)
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... RGD:2324920 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
multiple endocrine neoplasia type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3
OMIM:162300
CTD
ClinVar
OMIM
MouseDO
PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
multiple endocrine neoplasia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2694462 PMID:3328816 PMID:9536098 PMID:11986963 PMID:15026335 More... NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 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 21128
    disease of cellular proliferation 7667
      Multiple Primary Neoplasms 239
        multiple endocrine neoplasia 20
          multiple endocrine neoplasia type 1 8
          multiple endocrine neoplasia type 2A + 7
          multiple endocrine neoplasia type 2B + 1
          multiple endocrine neoplasia type 4 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          Hereditary Neoplastic Syndromes 1279
            multiple endocrine neoplasia 20
              multiple endocrine neoplasia type 1 8
              multiple endocrine neoplasia type 2A + 7
              multiple endocrine neoplasia type 2B + 1
              multiple endocrine neoplasia type 4 3
paths to the root