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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:Anorchia
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Accession:DOID:9008502 term browser browse the term
Synonyms:exact_synonym: Anorchia, Familial;   Congenital absence of testes;   Empty scrotum;   Testicular Regression, Embryonic;   Testicular regression syndrome;   Vanishing testes;   XY gonadal agenesis syndrome;   XY gonadal dysgenesis syndrome;   absence of testes
 broad_synonym: DHX37-RELATED CONDITION
 primary_id: MESH:C537770
 alt_id: MIM:273250


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Anorchia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 More... NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      endocrine system disease 6884
        gonadal disease 1228
          disorder of sexual development 238
            gonadal dysgenesis 58
              46,XY sex reversal 18
                Anorchia 1
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        Congenital Abnormalities 7760
          Urogenital Abnormalities 456
            disorder of sexual development 238
              46, XY Disorders of Sex Development 82
                46,XY sex reversal 18
                  Anorchia 1
paths to the root