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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 1
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Accession:DOID:9003873 term browser browse the term
Synonyms:exact_synonym: GGF1;   GINGF;   GINGF1;   HGF;   gingival fibromatosis, type 1;   hereditary gingival fibromatosis 1
 broad_synonym: SOS1-RELATED CONDITION
 primary_id: MESH:C562884
 alt_id: OMIM:135300


show annotations for term's descendants           Sort by:
Gingival Fibromatosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129933535 ATAC-STARR-seq lymphoblastoid silent region 11384 IAGP ClinVar Annotator: match by term: Fibromatosis, gingival, 1
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:39,120,201...39,120,920 JBrowse link
G REST RE1 silencing transcription factor IAGP ClinVar Annotator: match by term: Fibromatosis, gingival, 1 ClinVar PMID:28492532 PMID:28686854 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
ClinVar Annotator: match by term: Fibromatosis, gingival, 1
ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    sensory system disease 9761
      mouth disease 1375
        Mouth Abnormalities 200
          gingival fibromatosis 8
            Gingival Fibromatosis 1 3
Path 2
Term Annotations click to browse term
  disease 35756
    Pathological Conditions, Signs and Symptoms 21495
      Signs and Symptoms 16346
        Neurologic Manifestations 15414
          sensory system disease 9761
            mouth disease 1375
              tooth disease 775
                periodontal disease 144
                  gingival disease 30
                    gingival overgrowth 16
                      gingival fibromatosis 8
                        Gingival Fibromatosis 1 3
paths to the root