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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by OMIM:610755
OMIM
ClinVar
PMID:3328816 PMID:9536098 PMID:11986963 PMID:15026335 PMID:15607373 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:15026335 PMID:20075119 PMID:20530095 PMID:21454826 PMID:23273568 More... 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 4
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 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 17251
    syndrome 8148
      Hereditary Neoplastic Syndromes 930
        multiple endocrine neoplasia 12
          multiple endocrine neoplasia type 4 3
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                multiple endocrine neoplasia type 4 3
paths to the root