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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: EFO:1000321;   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.


show annotations for term's descendants           Sort by:
Leydig cell tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin dependent kinase 4 IEP associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes RGD PMID:18310289 RGD:2293582 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B IEP associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes RGD PMID:18310289 RGD:2293582 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Cga glycoprotein hormones, alpha subunit ISO RGD PMID:16007123 RGD:2293633 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Inha inhibin alpha ISO RGD PMID:11545298 RGD:2290379 NCBI chr 1:75,483,872...75,487,010
Ensembl chr 1:75,483,721...75,487,010 		JBrowse link
G Lhb luteinizing hormone beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 7:45,070,370...45,071,278
Ensembl chr 7:45,070,244...45,071,321 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565 RGD:2302176, RGD:2292537 NCBI chr17:89,023,812...89,099,487
Ensembl chr17:89,023,909...89,099,418 		JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO mRNA:alternative form:testis
protein:increased expression:testis, leydig cell		 RGD PMID:11920744 PMID:11994382 RGD:2298580, RGD:2298579 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982 		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 chr17:89,023,812...89,099,487
Ensembl chr17:89,023,909...89,099,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    disease of cellular proliferation 7742
      Neoplasms by Histologic Type 5372
        Gonadal Tissue Neoplasms 143
          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 16230
    disease of anatomical entity 15849
      Urogenital Diseases 5047
        reproductive system disease 3157
          reproductive system neoplasm 1445
            reproductive organ cancer 1432
              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