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 34
go back to main search page
Accession:DOID:0111911 term browser browse the term
Definition:A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in FSIP2 on chromosome 2q32.1. (DO)
Synonyms:exact_synonym: SPGF34
 primary_id: OMIM:618153
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spermatogenic failure 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 34 ClinVar
OMIM
PMID:30137358 NCBI chr 3:70,285,181...70,356,568
Ensembl chr 3:70,285,219...70,356,568
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      reproductive system disease 2563
        male reproductive system disease 1760
          male infertility 171
            spermatogenic failure 60
              spermatogenic failure 34 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Female Urogenital Diseases 1589
            female reproductive system disease 1585
              infertility 233
                male infertility 171
                  spermatogenic failure 60
                    spermatogenic failure 34 1
paths to the root

NHLBI Logo

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