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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 the RPL10L gene on chromosome 14q21.2. (DO)
Synonyms:exact_synonym: SPGF63
 primary_id: OMIM:619689
 alt_id: DOID:9002940

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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 chrNW_004936583:2,975,604...2,976,248
Ensembl chrNW_004936583:2,975,604...2,976,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      reproductive system disease 2779
        male reproductive system disease 1821
          male infertility 248
            spermatogenic failure 128
              spermatogenic failure 63 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      Urogenital Diseases 4493
        Female Urogenital Diseases and Pregnancy Complications 2224
          Female Urogenital Diseases 1840
            female reproductive system disease 1837
              infertility 321
                male infertility 248
                  spermatogenic failure 128
                    spermatogenic failure 63 1
paths to the root