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 5
go back to main search page
Accession:DOID:0070183 term browser browse the term
Definition:A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: SPGF5;   infertility associated with multi-tailed spermatozoa and excessive DNA;   infertility associated with multitailed spermatozoa and excessive DNA;   macrocephalic sperm head syndrome;   male infertility due to macrozoospermia;   male infertility with large-headed, multiflagellar, polyploid spermatozoa
 primary_id: MESH:C562903
 alt_id: OMIM:243060
 xref: GARD:12385;   ORDO:137893
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spermatogenic failure 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkc aurora kinase C ISO ClinVar Annotator: match by OMIM:243060
ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA
ClinVar
OMIM
PMID:17435757, PMID:19147683, PMID:21733974, PMID:24033266, PMID:28492532 NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      reproductive system disease 2574
        male reproductive system disease 1773
          male infertility 176
            spermatogenic failure 61
              spermatogenic failure 5 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              infertility 239
                male infertility 176
                  spermatogenic failure 61
                    spermatogenic failure 5 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.