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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 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      reproductive system disease 2573
        male reproductive system disease 1763
          male infertility 183
            spermatogenic failure 70
              spermatogenic failure 32 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              infertility 247
                male infertility 183
                  spermatogenic failure 70
                    spermatogenic failure 32 1
paths to the root