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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:Hypogonadism and Testicular Atrophy
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Accession:DOID:9000227 term browser browse the term
Synonyms:narrow_synonym: TESTICULAR ATROPHY
 primary_id: MESH:C567108


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Hypogonadism and Testicular Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Testicular atrophy ClinVar PMID:25741868 PMID:26392352 PMID:28492532 NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Testicular atrophy ClinVar PMID:25741868 PMID:36821639 NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132 		JBrowse link
G Tp53 tumor protein p53 IMP RGD PMID:28834365 RGD:14995504 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage IMP compared to SD RGD PMID:28834365 RGD:14995504
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        gonadal disease 1213
          hypogonadism 204
            Hypogonadism and Testicular Atrophy 5
paths to the root