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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 50
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Accession:DOID:0112272 term browser browse the term
Definition:An azoospermia characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in XRCC2 on chromosome 7q36.1. (DO)
Synonyms:exact_synonym: SPGF50
 primary_id: OMIM:619145
 alt_id: DOID:9006198
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 OMIM
ClinVar
PMID:30042186 PMID:30489636 NCBI chr 4:5,842,013...5,860,516
Ensembl chr 4:5,841,998...5,860,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      reproductive system disease 2724
        male reproductive system disease 1848
          male infertility 199
            azoospermia 46
              spermatogenic failure 50 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Urogenital Diseases 4317
        Female Urogenital Diseases and Pregnancy Complications 2026
          Female Urogenital Diseases 1727
            female reproductive system disease 1723
              infertility 280
                male infertility 199
                  azoospermia 46
                    spermatogenic failure 50 1
paths to the root