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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 23
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Accession:DOID:0070181 term browser browse the term
Definition:A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: SPGF23
 primary_id: OMIM:617707
 alt_id: OMIA:001673


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spermatogenic failure 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Spermatogenic failure 23 OMIM
ClinVar		 PMID:25741868 PMID:28206990 PMID:28492532 PMID:29790874 PMID:31479588 NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            azoospermia 68
              spermatogenic failure 23 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  azoospermia 68
                    spermatogenic failure 23 1
paths to the root