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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
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Accession:DOID:0060466 term browser browse the term
Definition:A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)
Synonyms:exact_synonym: fibromatosis gingivae;   gingival fibromatoses;   hereditary gingival fibromatosis;   hereditary gingival hyperplasia
 primary_id: MESH:D005351
 xref: OMIM:PS135300;   ORDO:2024


show annotations for term's descendants           Sort by:
gingival fibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G ZNF862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 7:141,541,098...141,570,053
Ensembl chr 7:154,016,309...154,039,291 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr17:63,172,670...63,255,587
Ensembl chr17:68,563,702...68,629,791 		JBrowse link
Gingival Fibromatosis 1 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, 1 ClinVar PMID:28492532 PMID:28686854 NCBI chr 4:66,984,466...67,012,301
Ensembl chr 4:73,526,085...73,582,242 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 OMIM
ClinVar		 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More... NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
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 chr 4:66,984,466...67,012,301
Ensembl chr 4:73,526,085...73,582,242 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Laband syndrome ClinVar PMID:23020937 PMID:25741868 PMID:26264464 PMID:26818738 PMID:28492532 More... NCBI chr 1:186,233,881...186,696,509
Ensembl chr 1:191,107,256...191,562,766 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr 1:186,233,881...186,696,509
Ensembl chr 1:191,107,256...191,562,766 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 NCBI chr 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      mouth disease 978
        Mouth Abnormalities 168
          gingival fibromatosis 7
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
            Gingival Fibromatosis 1 2
            Gingival Fibromatosis 2 0
            Gingival Fibromatosis 3 0
            Gingival Fibromatosis 4 0
            Gingival Fibromatosis with Distinctive Facies 0
            Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
            Jones Syndrome 0
            Ramon Syndrome 0
            Zimmerman Laband Syndrome + 3
            gingival fibromatosis 5 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            mouth disease 978
              tooth disease 433
                periodontal disease 129
                  gingival disease 23
                    gingival overgrowth 13
                      gingival fibromatosis 7
                        Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
                        Gingival Fibromatosis 1 2
                        Gingival Fibromatosis 2 0
                        Gingival Fibromatosis 3 0
                        Gingival Fibromatosis 4 0
                        Gingival Fibromatosis with Distinctive Facies 0
                        Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                        Jones Syndrome 0
                        Ramon Syndrome 0
                        Zimmerman Laband Syndrome + 3
                        gingival fibromatosis 5 1
paths to the root