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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 spermatogenic failure that is 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


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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 PMID:36593593 PMID:37004249 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic failure 17		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26721930 PMID:31463947 PMID:36593593 PMID:37004249 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 21128
    disease of anatomical entity 18212
      reproductive system disease 2991
        male reproductive system disease 1984
          male infertility 269
            spermatogenic failure 135
              spermatogenic failure 17 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  spermatogenic failure 135
                    spermatogenic failure 17 2
paths to the root