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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 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838 		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 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:28834365 RGD:14995504 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      endocrine system disease 5955
        gonadal disease 1170
          hypogonadism 194
            Hypogonadism and Testicular Atrophy 3
paths to the root