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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 15
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Accession:DOID:0070172 term browser browse the term
Definition:An azoospermia characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: SPGF15
 primary_id: OMIM:616950
For additional species annotation, visit the Alliance of Genome Resources.


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spermatogenic failure 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 15 ClinVar
OMIM
PMID:25899990 NCBI chr 1:213,523,638...213,534,641
Ensembl chr 1:213,523,639...213,534,641
JBrowse link

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
            azoospermia 37
              spermatogenic failure 15 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
                  azoospermia 37
                    spermatogenic failure 15 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.