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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:male infertility due to globozoospermia
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Accession:DOID:0112312 term browser browse the term
Definition:A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. (DO)
Synonyms:exact_synonym: globozoospermia;   globozoospermia syndrome;   globozoospermias;   male infertility due to round-headed spermatozoa
 alt_id: DOID:9000296;   DOID:9001850
 xref: GARD:12502;   NCI:C158500;   ORDO:171709


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show annotations for term's descendants           Sort by:
male infertility due to globozoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSP90B1 heat shock protein 90 beta family member 1 ISO MouseDO NCBI chr11:99,119,268...99,139,988
Ensembl chr11:99,119,224...99,139,722
JBrowse link
G SPATA16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chr15:16,283,640...16,540,132
Ensembl chr15:16,307,852...16,539,918
JBrowse link
spermatogenic failure 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia | ClinVar Annotator: match by term: SPATA16-related condition | ClinVar Annotator: match by term: Spermatogenic failure 6 OMIM
ClinVar
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chr15:16,283,640...16,540,132
Ensembl chr15:16,307,852...16,539,918
JBrowse link
spermatogenic failure 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZPBP zona pellucida binding protein ISO ClinVar Annotator: match by term: Spermatogenic failure 66 | ClinVar Annotator: match by term: ZPBP-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31985809 NCBI chr21:8,711,696...8,861,121
Ensembl chr21:8,712,454...8,860,249
JBrowse link
spermatogenic failure 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC62 coiled-coil domain containing 62 ISO ClinVar Annotator: match by term: Spermatogenic failure 67 OMIM
ClinVar
PMID:31985809 NCBI chr11:118,112,517...118,166,571
Ensembl chr11:118,113,620...118,163,128
JBrowse link
spermatogenic failure 85 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPACA1 sperm acrosome associated 1 ISO ClinVar Annotator: match by term: Spermatogenic failure 85 OMIM
ClinVar
PMID:34172998 NCBI chr13:12,536,833...12,553,433
Ensembl chr13:12,537,420...12,553,345
JBrowse link
spermatogenic failure 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY19L2 dpy-19 like 2 ISO ClinVar Annotator: match by term: Spermatogenic failure 9 OMIM
ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 More... NCBI chr21:23,259,906...23,346,210 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      reproductive system disease 3068
        male reproductive system disease 1947
          male infertility 321
            spermatogenic failure 174
              male infertility due to globozoospermia 6
                spermatogenic failure 6 1
                spermatogenic failure 66 1
                spermatogenic failure 67 1
                spermatogenic failure 85 1
                spermatogenic failure 9 1
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      Urogenital Diseases 4823
        Female Urogenital Diseases and Pregnancy Complications 2528
          Female Urogenital Diseases 2097
            female reproductive system disease 2094
              infertility 396
                male infertility 321
                  Teratozoospermia 40
                    male infertility due to globozoospermia 6
                      spermatogenic failure 6 1
                      spermatogenic failure 66 1
                      spermatogenic failure 67 1
                      spermatogenic failure 85 1
                      spermatogenic failure 9 1
paths to the root