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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:gingival fibromatosis 5
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Accession:DOID:0080280 term browser browse the term
Definition:A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. (DO)
Synonyms:exact_synonym: GGF5;   GINGF5;   HGF5;   hereditary gingival fibromatosis 5
 primary_id: OMIM:617626
For additional species annotation, visit the Alliance of Genome Resources.


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gingival fibromatosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 5
ClinVar Annotator: match by term: Fibromatosis, gingival, 5
ClinVar
OMIM
PMID:25741868 PMID:28686854 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      mouth disease 771
        Mouth Abnormalities 138
          gingival fibromatosis 7
            gingival fibromatosis 5 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          mouth disease 771
            tooth disease 295
              periodontal disease 115
                gingival disease 23
                  gingival overgrowth 12
                    gingival fibromatosis 7
                      gingival fibromatosis 5 1
paths to the root