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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 63
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Accession:DOID:0112356 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in RPL10L on chromosome 14q21.2. (DO)
Synonyms:exact_synonym: SPGF63
 primary_id: OMIM:619689
 alt_id: DOID:9002940
For additional species annotation, visit the Alliance of Genome Resources.



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spermatogenic failure 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Spermatogenic failure 63 OMIM
ClinVar
PMID:32111475 NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      reproductive system disease 2857
        male reproductive system disease 1920
          male infertility 240
            spermatogenic failure 105
              spermatogenic failure 63 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      Urogenital Diseases 4709
        Female Urogenital Diseases and Pregnancy Complications 2228
          Female Urogenital Diseases 1847
            female reproductive system disease 1843
              infertility 323
                male infertility 240
                  spermatogenic failure 105
                    spermatogenic failure 63 1
paths to the root