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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 chrNW_004624750:4,738,563...4,752,227
Ensembl chrNW_004624750:4,737,894...4,752,221 		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 chrNW_004624730:50,913,919...51,154,612
Ensembl chrNW_004624730:50,913,852...51,154,691 		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: Spermatogenic failure 6 OMIM
ClinVar		 PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 NCBI chrNW_004624730:50,913,919...51,154,612
Ensembl chrNW_004624730:50,913,852...51,154,691 		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 OMIM
ClinVar		 PMID:25741868 PMID:31985809 NCBI chrNW_004624740:4,029,823...4,088,659 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 ClinVar
OMIM		 PMID:31985809 NCBI chrNW_004624747:22,839,359...22,871,145
Ensembl chrNW_004624747:22,842,925...22,871,392 		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 ClinVar
OMIM		 PMID:34172998 NCBI chrNW_004624799:6,231,299...6,253,223
Ensembl chrNW_004624799:6,231,280...6,253,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      reproductive system disease 2747
        male reproductive system disease 1817
          male infertility 300
            spermatogenic failure 167
              male infertility due to globozoospermia 5
                spermatogenic failure 6 1
                spermatogenic failure 66 1
                spermatogenic failure 67 1
                spermatogenic failure 85 1
                spermatogenic failure 9 0
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      Urogenital Diseases 4418
        Female Urogenital Diseases and Pregnancy Complications 2233
          Female Urogenital Diseases 1837
            female reproductive system disease 1834
              infertility 370
                male infertility 300
                  Teratozoospermia 21
                    male infertility due to globozoospermia 5
                      spermatogenic failure 6 1
                      spermatogenic failure 66 1
                      spermatogenic failure 67 1
                      spermatogenic failure 85 1
                      spermatogenic failure 9 0
paths to the root