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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 ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 OMIM
ClinVar		 PMID:2694462 PMID:3328816 PMID:9536098 PMID:11986963 PMID:15026335 More... NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461 		JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 ClinVar PMID:28492532 NCBI chrNW_004936587:4,596,231...4,633,792
Ensembl chrNW_004936587:4,596,418...4,633,762 		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 chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      Hereditary Neoplastic Syndromes 1185
        multiple endocrine neoplasia 17
          multiple endocrine neoplasia type 4 3
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9609
            autosomal genetic disease 8893
              autosomal dominant disease 5828
                multiple endocrine neoplasia type 4 3
paths to the root