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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.



show annotations for term's descendants           Sort by:
 
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 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      reproductive system disease 2848
        male reproductive system disease 1912
          male infertility 241
            azoospermia 71
              spermatogenic failure 50 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Urogenital Diseases 4694
        Female Urogenital Diseases and Pregnancy Complications 2220
          Female Urogenital Diseases 1842
            female reproductive system disease 1838
              infertility 324
                male infertility 241
                  azoospermia 71
                    spermatogenic failure 50 1
paths to the root