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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 32
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Accession:DOID:0111925 term browser browse the term
Definition:A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in SOHLH1 on chromosome 9q34.3. (DO)
Synonyms:exact_synonym: SPGF32
 primary_id: OMIM:618115
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 32 OMIM
ClinVar
PMID:20506135 PMID:28492532 PMID:28718531 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      reproductive system disease 2840
        male reproductive system disease 1908
          male infertility 239
            spermatogenic failure 103
              spermatogenic failure 32 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Female Urogenital Diseases and Pregnancy Complications 2212
          Female Urogenital Diseases 1835
            female reproductive system disease 1831
              infertility 322
                male infertility 239
                  spermatogenic failure 103
                    spermatogenic failure 32 1
paths to the root