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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:An azoospermia 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:28206990, PMID:29790874 NCBI chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      reproductive system disease 2560
        male reproductive system disease 1757
          male infertility 171
            azoospermia 37
              spermatogenic failure 23 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              infertility 233
                male infertility 171
                  azoospermia 37
                    spermatogenic failure 23 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.