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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:spermatogenic failure 30
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Accession:DOID:0111913 term browser browse the term
Definition:A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33. (DO)
Synonyms:exact_synonym: SPGF30
 primary_id: OMIM:618110
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd9 tudor domain containing 9 ISO OMIM NCBI chr 6:136,536,636...136,650,481
Ensembl chr 6:136,536,736...136,649,859
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      reproductive system disease 2564
        male reproductive system disease 1761
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 30 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        Female Urogenital Diseases and Pregnancy Complications 1896
          Female Urogenital Diseases 1590
            female reproductive system disease 1586
              infertility 232
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 30 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.