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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 26
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Accession:DOID:0111924 term browser browse the term
Definition:A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in TSGA10 on chromosome 2q11.2. (DO)
Synonyms:exact_synonym: SPGF26
 primary_id: OMIM:617961
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsga10 testis specific 10 ISO ClinVar Annotator: match by term: Spermatogenic failure 26 ClinVar
OMIM
PMID:28905369 NCBI chr 9:39,991,822...40,098,239
Ensembl chr 9:39,991,830...40,098,232
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      reproductive system disease 2853
        male reproductive system disease 1915
          male infertility 240
            spermatogenic failure 105
              male infertility due to acephalic spermatozoa 7
                spermatogenic failure 26 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Urogenital Diseases 4700
        Female Urogenital Diseases and Pregnancy Complications 2223
          Female Urogenital Diseases 1845
            female reproductive system disease 1841
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    male infertility due to acephalic spermatozoa 7
                      spermatogenic failure 26 1
paths to the root