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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


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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, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      mouth disease 1012
        Mouth Abnormalities 170
          gingival fibromatosis 7
            gingival fibromatosis 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            mouth disease 1012
              tooth disease 443
                periodontal disease 134
                  gingival disease 23
                    gingival overgrowth 13
                      gingival fibromatosis 7
                        gingival fibromatosis 5 1
paths to the root