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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 Annotator: match by term: Spermatogenic failure 17
ClinVar PMID:26721930 PMID:31463947 NCBI chr 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
JBrowse link
G Plcz1 phospholipase C, zeta 1 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 17
ClinVar Annotator: match by term: Spermatogenic failure 17
ClinVar
OMIM
PMID:26721930 PMID:31463947 NCBI chr 4:174,125,072...174,181,524
Ensembl chr 4:174,125,178...174,180,729
JBrowse link

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 17 2
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 17 2
paths to the root