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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:X-linked spermatogenic failure 2
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Accession:DOID:0070185 term browser browse the term
Definition:An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. (DO)
Synonyms:exact_synonym: SPGFX2;   male infertility from defect in meiosis
 primary_id: OMIM:309120
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked spermatogenic failure 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 OMIM
ClinVar
PMID:25970010 PMID:28492532 NCBI chr  X:65,932,904...66,196,525
Ensembl chr  X:65,932,988...66,196,187
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      reproductive system disease 2735
        male reproductive system disease 1860
          male infertility 201
            azoospermia 46
              X-linked spermatogenic failure 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Female Urogenital Diseases 1739
            female reproductive system disease 1735
              infertility 283
                male infertility 201
                  azoospermia 46
                    X-linked spermatogenic failure 2 1
paths to the root