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
Accession: DOID:0060466
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
G
Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Gingival fibromatosis
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:11868160
RGD:1580011
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
G
Zfp862
zinc finger protein 862
ISO
ClinVar Annotator: match by term: Gingival fibromatosis
ClinVar
PMID:25741868
NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995
G
Abca5
ATP binding cassette subfamily A member 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis
OMIM CTD ClinVar
PMID:24831815 PMID:25741868
NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
G
Rest
RE1-silencing transcription factor
ISO
ClinVar Annotator: match by term: Fibromatosis, gingival, 1
ClinVar
PMID:28492532 PMID:28686854
NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 PMID:16199547 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17576681 PMID:17586837 PMID:18651097 PMID:18678287 PMID:18854871 PMID:18925667 PMID:18925961 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20186801 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:21041952 PMID:21274610 PMID:21340158 PMID:21387466 PMID:21784453 PMID:22190897 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23321623 PMID:23487764 PMID:23665959 PMID:23673306 PMID:23756559 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24124081 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:24896146 PMID:25073238 PMID:25337068 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26214590 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26686981 PMID:26918529 PMID:27153395 PMID:27236105 PMID:27304678 PMID:27418595 PMID:27763634 PMID:28074886 PMID:28378436 PMID:28492532 PMID:28884940 PMID:28957739 PMID:28991257 PMID:29037749 PMID:29074966 PMID:29402968 PMID:29493581 PMID:29625050 PMID:29641532 PMID:29696744 PMID:29752777 PMID:29868112 PMID:29907801 PMID:29970176 PMID:30039904 PMID:30050098 PMID:30266093 PMID:30325180 PMID:30417923 PMID:30541462 PMID:30762279 PMID:30784236 PMID:30838730 PMID:31219622 PMID:31292302 PMID:31368652 PMID:31560489 PMID:31573083 PMID:32059087 PMID:32603605 PMID:33042901 PMID:33848766 PMID:34008892 PMID:34644002 PMID:36110220 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
G
Rest
RE1-silencing transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5
OMIM ClinVar
PMID:25741868 PMID:26551668 PMID:28492532 PMID:28686854 PMID:33719663
NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
G
Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25915598
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
G
Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laband syndrome
CTD ClinVar
PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008 More...
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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 chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:27267311 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008 PMID:33619735 More...
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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 chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all