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: Teratozoospermia
Accession: DOID:9002321
browse the term
Definition: Presence of spermatozoa with abnormal morphology over 85 % in sperm.
Synonyms: exact_synonym: abnormal spermatozoa; abnormal spermatozoas; teratospermia; teratospermias; teratozoospermias
primary_id: MESH:D000072660
xref: EFO:0002625
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Atg5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37506864
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Fam83f
family with sequence similarity 83, member F
ISO
ClinVar Annotator: match by term: Teratozoospermia
ClinVar
PMID:25741868
NCBI chr 7:112,211,164...112,240,454
Ensembl chr 7:112,211,164...112,240,452
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28689229
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Nectin3
nectin cell adhesion molecule 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28689229
NCBI chr11:54,362,712...54,469,351
Ensembl chr11:54,364,487...54,462,519
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29983398
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ythdc2
YTH N6-methyladenosine RNA binding protein C2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34822792
NCBI chr18:37,266,559...37,331,681
Ensembl chr18:37,265,836...37,331,023
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Hsp90b1
heat shock protein 90 beta family member 1
ISS
MouseDO
NCBI chr 7:21,110,431...21,124,762
Ensembl chr 7:21,110,457...21,124,788
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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 chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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Agfg1
ArfGAP with FG repeats 1
ISS
MouseDO
NCBI chr 9:84,124,845...84,182,615
Ensembl chr 9:84,125,120...84,178,128
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Ccdc157
coiled-coil domain containing 157
ISS
MouseDO
NCBI chr14:79,012,433...79,031,458
Ensembl chr14:79,014,925...79,031,671
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Cfap58
cilia and flagella associated protein 58
ISS
MouseDO
NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
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Cfap61
cilia and flagella associated protein 61
ISS
MouseDO
NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
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Cfap70
cilia and flagella associated protein 70
ISS
MouseDO
NCBI chr15:3,852,381...3,918,036
Ensembl chr15:3,852,509...3,918,014
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Mlx
MAX dimerization protein MLX
ISS
MouseDO
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Poc1b
POC1 centriolar protein B
ISS
MouseDO
NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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Ppp4c
protein phosphatase 4, catalytic subunit
ISS
MouseDO
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Spata20
spermatogenesis associated 20
ISS
MouseDO
NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368
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Spata16
spermatogenesis associated 16
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Globozoospermia | ClinVar Annotator: match by term: Spermatogenic failure 6
OMIM CTD ClinVar
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458
NCBI chr 2:109,485,287...109,865,665
Ensembl chr 2:109,485,274...109,865,659
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Dpy19l2
dpy-19 like 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spermatogenic failure 9
OMIM CTD ClinVar
PMID:15533374 PMID:21397063 PMID:21397064 PMID:22627659 PMID:22653751 PMID:25741868 PMID:28492532 PMID:33108537 More...
NCBI chr 8:23,062,592...23,181,817
Ensembl chr 8:23,063,115...23,181,798
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