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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 52
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Accession:DOID:0112270 term browser browse the term
Definition:An azoospermia characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)
Synonyms:exact_synonym: SPGF52
 primary_id: OMIM:619202
 alt_id: DOID:9008964
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 52 OMIM
ClinVar
PMID:33508233 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      reproductive system disease 2840
        male reproductive system disease 1908
          male infertility 239
            azoospermia 71
              spermatogenic failure 52 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Female Urogenital Diseases and Pregnancy Complications 2212
          Female Urogenital Diseases 1835
            female reproductive system disease 1831
              infertility 322
                male infertility 239
                  azoospermia 71
                    spermatogenic failure 52 1
paths to the root