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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:Leydig cell tumor
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Accession:DOID:2696 term browser browse the term
Definition:A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. (DO)
Synonyms:exact_synonym: Leydig cell neoplasm;   interstitial cell tumor;   interstitial cell tumors
 narrow_synonym: Ovarian Leydig Cell Tumor
 primary_id: MESH:D007984
 xref: EFO:1000321;   EFO:1000423;   NCI:C134947;   NCI:C3188;   NCI:C4213
For additional species annotation, visit the Alliance of Genome Resources.


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Leydig cell tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK4 cyclin dependent kinase 4 ISO associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes RGD PMID:18310289 RGD:2293582 NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes RGD PMID:18310289 RGD:2293582 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr13:9,584,850...9,779,542 JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats RGD PMID:11545298 RGD:2290379 NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:transversion:CDS:1732G>C, amino acid D578H		 CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 RGD:2292537 RGD:2302176 NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:648,722...672,023 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO protein:increased expression:testis, leydig cell
mRNA:alternative form:testis		 RGD PMID:11920744 PMID:11994382 RGD:2298579 RGD:2298580 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018 		JBrowse link
Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Histologic Type 5050
        Gonadal Tissue Neoplasms 140
          sex cord-gonadal stromal tumor 38
            Leydig cell tumor 14
              Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
              testicular Leydig cell tumor 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4725
        reproductive system disease 2916
          reproductive system neoplasm 1256
            reproductive organ cancer 1241
              sex cord-gonadal stromal tumor 38
                Leydig cell tumor 14
                  Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
                  testicular Leydig cell tumor 0
paths to the root