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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 12
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Accession:DOID:0070171 term browser browse the term
Definition:A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: SPGF12
 primary_id: OMIM:615413
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nanos1 nanos C2HC-type zinc finger 1 ISO OMIM NCBI chr 1:259,897,659...259,901,501
Ensembl chr 1:259,897,939...259,898,730
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      reproductive system disease 2756
        male reproductive system disease 1873
          male infertility 213
            spermatogenic failure 94
              spermatogenic failure 12 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        Female Urogenital Diseases and Pregnancy Complications 2068
          Female Urogenital Diseases 1762
            female reproductive system disease 1758
              infertility 295
                male infertility 213
                  spermatogenic failure 94
                    spermatogenic failure 12 1
paths to the root