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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:leiomyosarcoma
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Accession:DOID:1967 term browser browse the term
Definition:A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)
Synonyms:exact_synonym: Leiomyosarcomas
 primary_id: MESH:D007890
 alt_id: RDO:0005973
 xref: GARD:6880;   NCI:C3158
For additional species annotation, visit the Alliance of Genome Resources.


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leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 3:141,224,858...141,298,272
Ensembl chr 3:141,225,290...141,298,265
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      Neoplasms by Histologic Type 4765
        cell type cancer 3391
          sarcoma 243
            leiomyosarcoma 16
              Carney Triad 3
              anus leiomyosarcoma 0
              bone leiomyosarcoma 0
              breast leiomyosarcoma 0
              central nervous system leiomyosarcoma 0
              colon leiomyosarcoma 0
              conventional leiomyosarcoma 0
              cutaneous leiomyosarcoma 0
              epithelioid leiomyosarcoma + 0
              esophagus leiomyosarcoma 0
              extrahepatic bile duct leiomyosarcoma 0
              fallopian tube leiomyosarcoma 0
              gallbladder leiomyosarcoma 0
              gastric leiomyosarcoma 0
              granular cell leiomyosarcoma 0
              heart leiomyosarcoma 0
              inflammatory leiomyosarcoma 0
              kidney leiomyosarcoma 0
              larynx leiomyosarcoma 0
              liver leiomyosarcoma 0
              lung leiomyosarcoma 0
              mediastinum leiomyosarcoma 0
              myxoid leiomyosarcoma + 0
              ovary leiomyosarcoma 0
              prostate leiomyosarcoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary vein leiomyosarcoma 0
              rectum leiomyosarcoma 0
              small intestine leiomyosarcoma 0
              superior vena cava leiomyosarcoma 0
              uterus leiomyosarcoma + 0
              vagina leiomyosarcoma 0
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                muscle tissue disease 820
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      muscle benign neoplasm 55
                        smooth muscle tumor 17
                          smooth muscle cancer 16
                            leiomyosarcoma 16
                              Carney Triad 3
                              anus leiomyosarcoma 0
                              bone leiomyosarcoma 0
                              breast leiomyosarcoma 0
                              central nervous system leiomyosarcoma 0
                              colon leiomyosarcoma 0
                              conventional leiomyosarcoma 0
                              cutaneous leiomyosarcoma 0
                              epithelioid leiomyosarcoma + 0
                              esophagus leiomyosarcoma 0
                              extrahepatic bile duct leiomyosarcoma 0
                              fallopian tube leiomyosarcoma 0
                              gallbladder leiomyosarcoma 0
                              gastric leiomyosarcoma 0
                              granular cell leiomyosarcoma 0
                              heart leiomyosarcoma 0
                              inflammatory leiomyosarcoma 0
                              kidney leiomyosarcoma 0
                              larynx leiomyosarcoma 0
                              liver leiomyosarcoma 0
                              lung leiomyosarcoma 0
                              mediastinum leiomyosarcoma 0
                              myxoid leiomyosarcoma + 0
                              ovary leiomyosarcoma 0
                              prostate leiomyosarcoma 0
                              pulmonary artery leiomyosarcoma 0
                              pulmonary vein leiomyosarcoma 0
                              rectum leiomyosarcoma 0
                              small intestine leiomyosarcoma 0
                              superior vena cava leiomyosarcoma 0
                              uterus leiomyosarcoma + 0
                              vagina leiomyosarcoma 0
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