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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:female reproductive organ benign neoplasm
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Accession:DOID:0060086 term browser browse the term
Definition:A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)
Synonyms:primary_id: RDO:9002413
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 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 Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar 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 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 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
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 12762
    disease of anatomical entity 12446
      reproductive system disease 2510
        reproductive organ benign neoplasm 25
          female reproductive organ benign neoplasm 22
            clear cell adenoma 0
            fallopian tube benign neoplasm + 0
            ovarian benign neoplasm + 0
            rete ovarii benign neoplasm + 0
            uterine benign neoplasm + 22
            vaginal benign neoplasm + 0
            vestibular gland benign neoplasm + 0
            vulvar benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 12762
    disease of anatomical entity 12446
      Urogenital Diseases 3634
        Female Urogenital Diseases and Pregnancy Complications 1875
          Female Urogenital Diseases 1604
            female reproductive system disease 1600
              Female Genital Neoplasms 663
                female reproductive organ benign neoplasm 22
                  clear cell adenoma 0
                  fallopian tube benign neoplasm + 0
                  ovarian benign neoplasm + 0
                  rete ovarii benign neoplasm + 0
                  uterine benign neoplasm + 22
                  vaginal benign neoplasm + 0
                  vestibular gland benign neoplasm + 0
                  vulvar benign neoplasm + 0
paths to the root