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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:Gonadal interstitial or stromal cell neoplasm composed of only LEYDIG CELLS. These tumors may produce one or more of the steroid hormones such as ANDROGENS; ESTROGENS; and CORTICOSTEROIDS. Clinical symptoms include testicular swelling, GYNECOMASTIA, sexual precocity in children, or virilization (VIRILISM) in females.
Synonyms:exact_synonym: Leydig cell neoplasm;   interstitial cell tumor;   interstitial cell tumors
 primary_id: MESH:D007984
 xref: 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 7:62,885,647...62,889,562
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 4:167,760,067...167,765,177
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 5:49,486,915...49,499,192
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 1:41,106,335...41,499,104
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 chr12:7,296,899...7,468,626
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 9:76,994,465...76,997,366
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 1:95,898,269...95,901,973
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 6:5,661,871...5,728,109
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 chr12:15,645,549...15,667,056
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 7:111,539,444...111,557,984
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 chr14:33,005,838...33,054,347
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 chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr17:37,859,999...37,870,062
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 chr15:27,968,893...27,978,291
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 null ClinVar PMID:10580072 PMID:11857565 NCBI chr 6:5,661,871...5,728,109
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 17251
    disease of anatomical entity 16595
      reproductive system disease 2750
        reproductive organ cancer 1149
          sex cord-gonadal stromal tumor 39
            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 17251
    disease of anatomical entity 16595
      Urogenital Diseases 4376
        reproductive system disease 2750
          reproductive organ cancer 1149
            sex cord-gonadal stromal tumor 39
              Leydig cell tumor 14
                Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
                testicular Leydig cell tumor 0
paths to the root