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
Accession: DOID:0112312
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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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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
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:28492532 PMID:32582379 PMID:33108537 More...
NCBI chr21:23,259,906...23,346,210
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