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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 75
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Accession:DOID:0070574 term browser browse the term
Definition:A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. (DO)
Synonyms:exact_synonym: SPGF75
 primary_id: MIM:619949
 alt_id: DOID:9003010


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spermatogenic failure 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc1 shortage in chiasmata 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 75 OMIM
ClinVar		 PMID:32741963 PMID:32900840 PMID:35485979 NCBI chr 5:73,864,423...73,956,487
Ensembl chr 5:73,866,334...73,956,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      reproductive system disease 3039
        male reproductive system disease 2032
          male infertility 331
            spermatogenic failure 181
              spermatogenic failure 75 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      Urogenital Diseases 5271
        Female Urogenital Diseases and Pregnancy Complications 2502
          Female Urogenital Diseases 2031
            female reproductive system disease 2028
              infertility 423
                male infertility 331
                  spermatogenic failure 181
                    spermatogenic failure 75 1
paths to the root