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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 4
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Accession:DOID:0080137 term browser browse the term
Definition:A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)
Synonyms:exact_synonym: MEN4;   multiple endocrine neoplasia, type IV
 primary_id: MESH:C567059
 alt_id: OMIM:610755


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multiple endocrine neoplasia type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4		 OMIM
CTD
ClinVar		 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 18969
    syndrome 10888
      Hereditary Neoplastic Syndromes 1284
        multiple endocrine neoplasia 20
          multiple endocrine neoplasia type 4 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                multiple endocrine neoplasia type 4 3
paths to the root