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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IDA
IAGP		 ClinVar Annotator: match by term: Gingival fibromatosis ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11868160 RGD:1580011 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G ZNF862 zinc finger protein 862 IAGP ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 IAGP
EXP		 ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24831815 PMID:25741868 NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244 		JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers 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
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
gingival fibromatosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor susceptibility IAGP ClinVar Annotator: match by term: Fibromatosis, gingival, 5
ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome		 CTD
ClinVar		 PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 More... NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
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 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    sensory system disease 9759
      mouth disease 1374
        Mouth Abnormalities 200
          gingival fibromatosis 8
            Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
            Gingival Fibromatosis 1 3
            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 35753
    Pathological Conditions, Signs and Symptoms 21489
      Signs and Symptoms 16342
        Neurologic Manifestations 15410
          sensory system disease 9759
            mouth disease 1374
              tooth disease 775
                periodontal disease 144
                  gingival disease 30
                    gingival overgrowth 16
                      gingival fibromatosis 8
                        Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia 1
                        Gingival Fibromatosis 1 3
                        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