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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
 xref: EFO:1000321;   EFO:1000423;   MESH:D007984;   MONDO:0006266;   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 chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403 		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 chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:49,487,068...49,499,191 		JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Inha inhibin subunit alpha IEP protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats RGD PMID:11545298 RGD:2290379 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:76,993,589...76,997,248 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565 RGD:2302176, RGD:2292537 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO protein:increased expression:testis, leydig cell
mRNA:alternative form:testis		 RGD PMID:11994382 PMID:11920744 RGD:2298579, RGD:2298580 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296 		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 chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      Neoplasms by Histologic Type 5345
        Gonadal Tissue Neoplasms 147
          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 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        reproductive system disease 3193
          reproductive system neoplasm 1442
            reproductive organ cancer 1427
              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