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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 16
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Accession:DOID:0070184 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: SPGF16;   acephalic spermatozoa syndrome
 primary_id: OMIM:617187
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sun5 Sad1 and UNC84 domain containing 5 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 16 ClinVar
OMIM
PMID:27640305 NCBI chr 3:149,336,136...149,356,191
Ensembl chr 3:149,336,238...149,356,192
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      reproductive system disease 2592
        male reproductive system disease 1791
          male infertility 183
            spermatogenic failure 68
              spermatogenic failure 16 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              infertility 247
                male infertility 183
                  spermatogenic failure 68
                    spermatogenic failure 16 1
paths to the root