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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:Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty
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Accession:DOID:9002826 term browser browse the term
Synonyms:primary_id: MESH:C567168
 alt_id: RDO:0015315
For additional species annotation, visit the Alliance of Genome Resources.


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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 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        gonadal disease 905
          Precocious Puberty 11
            Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        reproductive system disease 2584
          reproductive organ cancer 1045
            sex cord-gonadal stromal tumor 39
              Leydig cell tumor 14
                Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.