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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:Odontogenic Cysts
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Accession:DOID:9002504 term browser browse the term
Definition:Cysts found in the jaws and arising from epithelium involved in tooth formation. They include follicular cysts (e.g., primordial cyst, dentigerous cyst, multilocular cyst), lateral periodontal cysts, and radicular cysts. They may become keratinized (odontogenic keratocysts). Follicular cysts may give rise to ameloblastomas and, in rare cases, undergo malignant transformation.
Synonyms:exact_synonym: Keratocyst;   Keratocysts;   Odontogenic Cyst
 primary_id: MESH:D009807;   RDO:0004981
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Odontogenic Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:19703995 RGD:12880040 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
ClinVar Annotator: match by term: Basal cell nevus syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
CTD
PMID:1347096, PMID:8302318, PMID:8658145, PMID:8681379, PMID:8840969, PMID:8981943, PMID:9096761, PMID:9231911, PMID:9341860, PMID:9415689, PMID:9463336, PMID:9620294, PMID:10048928, PMID:10200051, PMID:10564585, PMID:11231326, PMID:11457640, PMID:11941477, PMID:12192414, PMID:12204003, PMID:12655573, PMID:12879481, PMID:12900905, PMID:12925203, PMID:15042702, PMID:15459969, PMID:15545745, PMID:15565302, PMID:15712338, PMID:16088933, PMID:16203740, PMID:16231297, PMID:16301862, PMID:16405370, PMID:16419085, PMID:16508594, PMID:16909134, PMID:16929110, PMID:16931872, PMID:16936257, PMID:17001668, PMID:17021131, PMID:17096318, PMID:17703323, PMID:18302678, PMID:18373848, PMID:18477452, PMID:18502968, PMID:18510667, PMID:18539553, PMID:18830227, PMID:19002359, PMID:19287498, PMID:19346217, PMID:19557015, PMID:20068110, PMID:20301330, PMID:20485063, PMID:21188540, PMID:21520333, PMID:21567912, PMID:22313357, PMID:22382802, PMID:22572734, PMID:22675565, PMID:22703879, PMID:22820256, PMID:22829011, PMID:22952776, PMID:22995991, PMID:23061468, PMID:23313819, PMID:23334667, PMID:23761049, PMID:23951062, PMID:24033266, PMID:24055113, PMID:24204797, PMID:24335643, PMID:24368541, PMID:24529220, PMID:24668667, PMID:24728327, PMID:24814739, PMID:24942795, PMID:25117323, PMID:25131638, PMID:25260786, PMID:25326635, PMID:25403219, PMID:25525159, PMID:25559776, PMID:25567908, PMID:25637381, PMID:25741868, PMID:25876211, PMID:26356331, PMID:26489027, PMID:26544948, PMID:26604511, PMID:26802149, PMID:26893459, PMID:26997948, PMID:27028851, PMID:27153395, PMID:27535533, PMID:27561271, PMID:27793025, PMID:27930734, PMID:28342698, PMID:28492532, PMID:28596197, PMID:28690523, PMID:28733979, PMID:28873162, PMID:29212164, PMID:29575684, PMID:29654263, PMID:29983323, PMID:30166346, PMID:30311386, PMID:30411536, PMID:31837199, PMID:23897749, PMID:19557015, PMID:15308259, PMID:21514272, PMID:12925203 RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:18285427, PMID:25741868, PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin syndrome OMIM
ClinVar
PMID:12068298, PMID:19533801, PMID:19833601, PMID:21188540, PMID:22508808, PMID:22810696, PMID:23826113, PMID:24728327, PMID:25403219, PMID:25741868, PMID:26184317, PMID:27363716, PMID:27930734, PMID:28050010, PMID:28492532, PMID:28965847, PMID:29641532, PMID:29654263, PMID:30256826 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
Periodontal Cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719
Radicular Cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Stomatognathic Diseases 981
      Jaw Diseases 299
        Jaw Cysts 16
          Odontogenic Cysts 15
            Calcifying Odontogenic Cyst 0
            Dentigerous Cyst 0
            Periodontal Cyst + 3
            nevoid basal cell carcinoma syndrome + 10
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            Bone Cysts 16
              Jaw Cysts 16
                Odontogenic Cysts 15
                  Calcifying Odontogenic Cyst 0
                  Dentigerous Cyst 0
                  Periodontal Cyst + 3
                  nevoid basal cell carcinoma syndrome + 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.