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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 25
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Accession:DOID:0111920 term browser browse the term
Definition:A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. (DO)
Synonyms:exact_synonym: SPGF25
 primary_id: OMIM:617960


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spermatogenic failure 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Spermatogenic failure 25 OMIM
ClinVar		 PMID:25741868 PMID:26199321 PMID:28355598 PMID:28492532 NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      reproductive system disease 3011
        male reproductive system disease 2008
          male infertility 305
            spermatogenic failure 173
              spermatogenic failure 25 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              infertility 397
                male infertility 305
                  spermatogenic failure 173
                    spermatogenic failure 25 1
paths to the root