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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 6
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Accession:DOID:0070167 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: SPGF6;   acrosome malformation of spermatozoa;   round-headed spermatozoa
 broad_synonym: globozoospermia
 primary_id: OMIM:102530
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia OMIM
ClinVar
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                spermatogenic failure 6 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Urogenital Diseases 4700
        Female Urogenital Diseases and Pregnancy Complications 2223
          Female Urogenital Diseases 1845
            female reproductive system disease 1841
              infertility 323
                male infertility 240
                  Teratozoospermia 11
                    male infertility due to globozoospermia 3
                      spermatogenic failure 6 1
paths to the root