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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 22
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Accession:DOID:0070177 term browser browse the term
Definition:An azoospermia characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: SPGF22
 primary_id: OMIM:617706
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 22 ClinVar
OMIM
PMID:28206990 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      reproductive system disease 2592
        male reproductive system disease 1791
          male infertility 183
            azoospermia 40
              spermatogenic failure 22 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              infertility 247
                male infertility 183
                  azoospermia 40
                    spermatogenic failure 22 1
paths to the root