male infertility due to globozoospermia - Ontology Report

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	go back to main search page
Accession:	DOID:0112312	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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Genes (2)

male infertility due to globozoospermia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

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

spermatogenic failure 6