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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 36
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Accession:DOID:0111921 term browser browse the term
Definition:A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in PPP2R3C on chromosome 14q13.2. (DO)
Synonyms:exact_synonym: SPGF36
 primary_id: OMIM:618420
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 36 OMIM
ClinVar
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      reproductive system disease 2564
        male reproductive system disease 1761
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 36 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        Female Urogenital Diseases and Pregnancy Complications 1896
          Female Urogenital Diseases 1590
            female reproductive system disease 1586
              infertility 232
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 36 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.