Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 16091
    disease of anatomical entity 15341
      reproductive system disease 2573
        male reproductive system disease 1763
          male infertility 183
            azoospermia 40
              spermatogenic failure 15 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              infertility 247
                male infertility 183
                  azoospermia 40
                    spermatogenic failure 15 1
paths to the root