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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:vulvar disease
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Accession:DOID:2059 term browser browse the term
Definition:A female reproductive system disease that is located_in the vulva. (DO)
Synonyms:exact_synonym: vulvar diseases
 primary_id: MESH:D014845
 xref: NCI:C27631
For additional species annotation, visit the Alliance of Genome Resources.


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vulva cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 severity ISO associated with Papillomavirus Infections RGD PMID:22685591 RGD:38676500 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human) RGD PMID:12543794 RGD:2314696 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO vulvar squamous cell carcinoma (SCC); mRNA:increased expression:tumor:expressed in 9/12 tumors but not in normal vulvar epithelium, cervical SCCs, or endometrial or ovarian adenocarcinomas RGD PMID:10027405 RGD:2293612 NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression ISO DNA:repeat:intron RGD PMID:15196865 RGD:2292078 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
vulva squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC25A cell division cycle 25A ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
JBrowse link
G CDC25B cell division cycle 25B disease_progression ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
JBrowse link
G CDC25C cell division cycle 25C disease_progression ISO protein:increased expression:vulva RGD PMID:20500813 RGD:2729590 NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
JBrowse link
G SFN stratifin ISO DNA, mRNA:hypermethylation, decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
JBrowse link
Vulvar Lichen Sclerosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17300232 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:18076706 RGD:2293866 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:18076706 RGD:2293866 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17300232 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
Vulvar Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A ISO associated with Papillomavirus Infections;protein:increased expression:vulva RGD PMID:16998595 PMID:18192968 RGD:2289673 RGD:2289682 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CHEK2 checkpoint kinase 2 ISO DNA:polymorphism:cds:252A>G RGD PMID:11875739 RGD:2298483 NCBI chr22:9,757,038...9,811,171 JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase disease_progression ISO protein:decreased expression:vulva, squamous epithelial cell RGD PMID:16608079 RGD:2301231 NCBI chr 3:59,670,777...61,177,974 JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:vulva RGD PMID:15870899 RGD:2293514 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:vulva RGD PMID:15870899 RGD:2293514 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:vulva RGD PMID:16033093 PMID:30514679 RGD:14995938 RGD:2290537 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TP73 tumor protein p73 ISO mRNA, protein:splice variant, increased expression:vulva RGD PMID:11720444 RGD:2290590 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
Vulvar Vestibulitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO RGD PMID:9015038 RGD:7394738 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:vagina RGD PMID:9015038 RGD:7394738 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
vulvovaginal candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:23853597 RGD:39938863 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13850
    disease of anatomical entity 13507
      reproductive system disease 2652
        female reproductive system disease 1660
          vulvar disease 22
            Pruritus Vulvae 0
            Trichomonas vaginalis trichomoniasis 0
            Vulvar Lichen Sclerosus 4
            Vulvar Neoplasms + 15
            Vulvodynia 0
            atrophic vulva 0
            ulceration of vulva 0
            vulva fibroepithelial polyp 0
            vulvar dystrophy 0
            vulvitis + 5
Path 2
Term Annotations click to browse term
  disease 13850
    disease of anatomical entity 13507
      Urogenital Diseases 3838
        Female Urogenital Diseases and Pregnancy Complications 1953
          Female Urogenital Diseases 1664
            female reproductive system disease 1660
              vulvar disease 22
                Pruritus Vulvae 0
                Trichomonas vaginalis trichomoniasis 0
                Vulvar Lichen Sclerosus 4
                Vulvar Neoplasms + 15
                Vulvodynia 0
                atrophic vulva 0
                ulceration of vulva 0
                vulva fibroepithelial polyp 0
                vulvar dystrophy 0
                vulvitis + 5
paths to the root