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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 17
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Accession:DOID:0070174 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: SPGF17;   male infertility due to oocyte activation failure
 primary_id: OMIM:617214
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Spermatogenic failure 17 ClinVar PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
JBrowse link
G Plcz1 phospholipase C, zeta 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 17 OMIM
ClinVar
PMID:25741868 PMID:26721930 PMID:31463947 NCBI chr 4:172,873,110...172,929,191
Ensembl chr 4:172,873,112...172,928,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      reproductive system disease 2842
        male reproductive system disease 1910
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 17 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 17 2
paths to the root