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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 8
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Accession:DOID:0070169 term browser browse the term
Definition:A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: SPGF8
 primary_id: OMIM:613957
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by OMIM:613957 OMIM
ClinVar
PMID:20887963 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      reproductive system disease 2737
        male reproductive system disease 1860
          male infertility 201
            spermatogenic failure 81
              spermatogenic failure 8 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2046
          Female Urogenital Diseases 1741
            female reproductive system disease 1737
              infertility 283
                male infertility 201
                  spermatogenic failure 81
                    spermatogenic failure 8 1
paths to the root