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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:Bone Cysts
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Accession:DOID:9008327 term browser browse the term
Definition:Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years.
Synonyms:exact_synonym: Bone Cyst;   Intra Osseous Ganglia;   Intra Osseous Ganglion;   Intra-Osseous Ganglias;   Intra-Osseous Ganglions;   Intraosseous Ganglia;   Intraosseous Ganglias;   Intraosseous Ganglion;   Intraosseous Ganglions;   Solitary Cyst;   Solitary Cysts;   Subchondral Cyst;   Subchondral Cysts
 primary_id: MESH:D001845;   RDO:0001863
For additional species annotation, visit the Alliance of Genome Resources.

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Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers 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:19557015 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:16301862 PMID:16419085 PMID:17703323 PMID:18830227 PMID:19557015 PMID:21567912 PMID:22382802 PMID:28492532 PMID:30936464 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: 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:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:11231326 PMID:11387302 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:16199547 PMID:16203740 PMID:16231297 PMID:16301862 PMID:16405370 PMID:16419085 PMID:16508594 PMID:16906569 PMID:16909134 PMID:16929110 PMID:16931872 PMID:16936257 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17576681 PMID:17703323 PMID:18302678 PMID:18373848 PMID:18477452 PMID:18502968 PMID:18510667 PMID:18539553 PMID:18830227 PMID:19002359 PMID:19287498 PMID:19346217 PMID:19521425 PMID:19557015 PMID:20068110 PMID:20301330 PMID:20485063 PMID:21188540 PMID:21368767 PMID:21520333 PMID:21567912 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22829011 PMID:22844361 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:24369017 PMID:24529220 PMID:24651015 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:25640679 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:29277811 PMID:29381605 PMID:29575684 PMID:29654263 PMID:29983323 PMID:30093976 PMID:30166346 PMID:30411536 PMID:30754660 PMID:30936464 PMID:30997576 PMID:31837199 PMID:32074614 PMID:32251017, 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:9536098 PMID:17576681 PMID:18285427 PMID:25741868 PMID:28166811 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
ClinVar Annotator: match by term: Fifth Phacomatosis		 OMIM
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:22810696 PMID:23826113 PMID:24651015 PMID:24728327 PMID:25403219 PMID:25741868 PMID:26184317 PMID:26580448 PMID:27363716 PMID:27930734 PMID:28050010 PMID:28166811 PMID:28492532 PMID:28873162 PMID:28965847 PMID:29356994 PMID:29489754 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:32278351 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016 		JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers 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
Periodontal Cyst term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 17150
    disease of cellular proliferation 6946
      Cysts 263
        Bone Cysts 16
          Aneurysmal Bone Cysts 0
          Jaw Cysts + 16
          Polycystic Bone Disease 0
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Skin and Connective Tissue Diseases 5816
        connective tissue disease 4426
          bone disease 3109
            Bone Cysts 16
              Aneurysmal Bone Cysts 0
              Jaw Cysts + 16
              Polycystic Bone Disease 0
paths to the root