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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 chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CDC25B cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759 		JBrowse link
G CDC25C cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr18:46,860,636...46,861,697 JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 6:42,547,638...42,573,407
Ensembl chr 6:42,548,983...42,573,962 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007 		JBrowse link
G DDX1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990 		JBrowse link
G JUP junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		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 chr 4:72,352,966...72,386,469
Ensembl chr 4:72,352,986...72,386,307 		JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		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 chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:penis, skin RGD PMID:14871981 RGD:2300087 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G TOP2A DNA topoisomerase II alpha severity ISO RGD PMID:18489530 RGD:2315128 NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496 		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 chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		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 chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr10:8,348,101...8,491,435 JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr25:39,624,554...39,687,991 JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992 		JBrowse link
G NTM neurotrimin treatment ISO RGD PMID:32033718 RGD:596948395 NCBI chr 5:2,725,902...3,658,635
Ensembl chr 5:2,725,943...3,658,311 		JBrowse link
G NUAK1 NUAK family kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr10:32,463,845...32,537,425
Ensembl chr10:32,464,123...32,536,650 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM:150699 MouseDO NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		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 chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      reproductive system disease 3099
        reproductive organ benign neoplasm 41
          Wolffian duct adenoma 0
          dartoic leiomyoma 0
          female reproductive organ benign neoplasm + 38
          male reproductive organ benign neoplasm + 3
          paratesticular lipoma + 0
          sex cord-stromal benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      Urogenital Diseases 4910
        reproductive system disease 3099
          reproductive system neoplasm 1411
            reproductive organ benign neoplasm 41
              Wolffian duct adenoma 0
              dartoic leiomyoma 0
              female reproductive organ benign neoplasm + 38
              male reproductive organ benign neoplasm + 3
              paratesticular lipoma + 0
              sex cord-stromal benign neoplasm + 0
paths to the root