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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:reproductive organ benign neoplasm
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Accession:DOID:0050622 term browser browse the term
Definition:An organ system benign neoplasm that is located_in reproductive system organs. (DO)

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dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829 		JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051 		JBrowse link
G Cdc25b cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116 		JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chrNW_004955418:2,114,053...2,138,513 JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chrNW_004955422:14,576,971...14,578,868 JBrowse link
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004955435:12,671,759...12,695,070
Ensembl chrNW_004955435:12,671,759...12,695,564 		JBrowse link
G Csrp1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004955406:37,595,481...37,615,384
Ensembl chrNW_004955406:37,595,420...37,615,612 		JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chrNW_004955487:9,085,950...9,117,599
Ensembl chrNW_004955487:9,085,918...9,119,979 		JBrowse link
G Jup junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chrNW_004955426:20,972,663...20,999,769
Ensembl chrNW_004955426:20,972,663...20,999,769 		JBrowse link
G Tff1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
Endometrial Hyperplasia without Atypia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Endometrial hyperplasia without atypia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
Endometrial Intraepithelial Neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928 		JBrowse link
penile benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO protein:increased expression:nucleus RGD PMID:17695500 RGD:2289129 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300 		JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:penis, skin RGD PMID:14871981 RGD:2300087 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO RGD PMID:18489530 RGD:2315128 NCBI chrNW_004955451:14,928,273...14,964,855
Ensembl chrNW_004955451:14,929,136...14,964,723 		JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546 		JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase susceptibility ISO DNA:polymorphisms: : RGD PMID:26918693 RGD:152995264 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004955476:11,833,595...11,836,411
Ensembl chrNW_004955476:11,833,595...11,836,411 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955432:29,925...254,327
Ensembl chrNW_004955432:29,197...254,379 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chrNW_004955458:12,493,790...12,624,805 JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		JBrowse link
G Ntm neurotrimin treatment ISO RGD PMID:32033718 RGD:596948395 NCBI chrNW_004955412:32,779,245...33,194,093
Ensembl chrNW_004955412:32,227,794...33,195,101 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004955405:40,156,316...40,188,144
Ensembl chrNW_004955405:40,153,747...40,188,145 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO OMIM:150699 MouseDO NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362 		JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 BCL2 like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      reproductive system disease 2904
        reproductive organ benign neoplasm 39
          Wolffian duct adenoma 0
          dartoic leiomyoma 0
          female reproductive organ benign neoplasm + 36
          male reproductive organ benign neoplasm + 3
          paratesticular lipoma + 0
          sex cord-stromal benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      Urogenital Diseases 4559
        reproductive system disease 2904
          reproductive system neoplasm 1318
            reproductive organ benign neoplasm 39
              Wolffian duct adenoma 0
              dartoic leiomyoma 0
              female reproductive organ benign neoplasm + 36
              male reproductive organ benign neoplasm + 3
              paratesticular lipoma + 0
              sex cord-stromal benign neoplasm + 0
paths to the root