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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:oligospermia
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Accession:DOID:14228 term browser browse the term
Definition:A male fertility issue defined as a low sperm concentration in the ejaculate. (DO)
Synonyms:exact_synonym: Low Sperm Count;   hypospermatogeneses;   hypospermatogenesis;   low sperm counts;   oligozoospermia
 primary_id: MESH:D009845
 xref: ICD10CM:N46.1;   ICD9CM:606.1;   NCI:C34860
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
oligospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDK branched chain keto acid dehydrogenase kinase ISO DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 6:17,128,615...17,132,925
Ensembl chr 6:17,128,824...17,133,585
JBrowse link
G BRDT bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr 6:56,918,939...56,977,355
Ensembl chr 6:56,919,195...56,965,638
JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr31:34,122,477...34,240,555
Ensembl chr31:34,122,463...34,240,639
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G FAM83F family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Oligozoospermia ClinVar PMID:25741868 NCBI chr10:25,106,663...25,140,989
Ensembl chr10:25,108,003...25,140,989
JBrowse link
G FSHB follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680
JBrowse link
G KIF3B kinesin family member 3B ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr24:21,661,730...21,706,839
Ensembl chr24:21,661,059...21,802,815
JBrowse link
G LOC486307 piwi-like protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr26:17,035,530...17,063,177
Ensembl chr26:17,036,963...17,061,992
JBrowse link
G MSH4 mutS homolog 4 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 PMID:33448284 NCBI chr 6:70,745,777...70,822,507
Ensembl chr 6:70,746,634...70,823,004
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:25,396,527...25,401,587
Ensembl chr  X:25,396,527...25,401,715
JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr21:6,319,986...6,391,149
Ensembl chr21:6,319,987...6,366,787
JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:41,782,774...41,799,083
Ensembl chr  X:41,782,671...41,798,828
JBrowse link
G TPCN1 two pore segment channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr26:10,599,898...10,662,269
Ensembl chr26:10,599,780...10,660,767
JBrowse link
G YTHDC2 YTH N6-methyladenosine RNA binding protein C2 ISO CTD Direct Evidence: therapeutic CTD PMID:34822792 NCBI chr11:3,537,571...3,613,455
Ensembl chr11:3,536,854...3,612,282
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1AP meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:32673564 NCBI chr17:48,510,569...48,588,589
Ensembl chr17:48,510,094...48,587,547
JBrowse link
G SYCP2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 PMID:31866047 NCBI chr24:44,471,516...44,546,501
Ensembl chr24:44,471,828...44,546,495
JBrowse link
G TRIM71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr23:3,888,287...3,959,910
Ensembl chr23:3,893,647...3,960,411
JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FSHB follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia OMIM
ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr21:50,279,320...50,282,843
Ensembl chr21:50,280,208...50,282,680
JBrowse link
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGFG1 ArfGAP with FG repeats 1 ISO MouseDO NCBI chr25:40,229,732...40,307,277
Ensembl chr25:40,243,734...40,301,135
JBrowse link
G CCDC157 coiled-coil domain containing 157 ISO MouseDO NCBI chr26:23,504,167...23,520,311
Ensembl chr26:23,504,882...23,518,927
JBrowse link
G CFAP58 cilia and flagella associated protein 58 ISO MouseDO NCBI chr28:16,653,212...16,752,229
Ensembl chr28:16,653,208...16,751,838
JBrowse link
G CFAP61 cilia and flagella associated protein 61 ISO MouseDO NCBI chr24:3,018,791...3,294,646
Ensembl chr24:3,018,781...3,287,597
JBrowse link
G CFAP70 cilia and flagella associated protein 70 ISO MouseDO NCBI chr 4:23,830,335...23,926,922
Ensembl chr 4:23,830,336...23,924,350
JBrowse link
G MLX MAX dimerization protein MLX ISO MouseDO NCBI chr 9:20,391,762...20,395,792
Ensembl chr 9:20,391,762...20,395,735
JBrowse link
G POC1B POC1 centriolar protein B ISO MouseDO NCBI chr15:30,388,351...30,481,294
Ensembl chr15:30,382,033...30,483,135
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO MouseDO NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854
JBrowse link
G SPATA20 spermatogenesis associated 20 ISO MouseDO NCBI chr 9:26,468,931...26,476,218
Ensembl chr 9:26,468,208...26,476,211
JBrowse link
Young Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia ClinVar NCBI chr  X:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      reproductive system disease 2898
        male reproductive system disease 1901
          male infertility 255
            oligospermia 33
              CRYPTOZOOSPERMIA 3
              Young Syndrome 1
              hypogonadotropic hypogonadism 24 without anosmia 1
              oligoasthenoteratozoospermia 9
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      Urogenital Diseases 4737
        Female Urogenital Diseases and Pregnancy Complications 2356
          Female Urogenital Diseases 1916
            female reproductive system disease 1913
              infertility 330
                male infertility 255
                  oligospermia 33
                    CRYPTOZOOSPERMIA 3
                    Young Syndrome 1
                    hypogonadotropic hypogonadism 24 without anosmia 1
                    oligoasthenoteratozoospermia 9
paths to the root