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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 9
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Accession:DOID:0111156 term browser browse the term
Definition:A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)
Synonyms:exact_synonym: SPGF9;   abnormal spermatozoa;   abnormal spermatozoas;   complete globozoospermia;   globozoospermias;   male infertility due to globozoospermia;   male infertility due to round-headed spermatozoa;   total globozoospermia
 primary_id: OMIM:613958
 alt_id: DOID:0070175
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy19l2 dpy-19 like 2 ISO ClinVar Annotator: match by OMIM:613958 OMIM
ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22653751 NCBI chr 8:25,710,492...25,829,589
Ensembl chr 8:25,710,472...25,829,569
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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 9 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
                  Teratozoospermia 7
                    Globozoospermia 2
                      spermatogenic failure 9 1
paths to the root