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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 condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
Synonyms:exact_synonym: Hypospermatogenesis;   Low Sperm Count;   Low Sperm Counts;   hypospermatogeneses;   oligozoospermia
 primary_id: MESH:D009845
 alt_id: RDO:0002381
 xref: ICD10CM:N46.1;   ICD10CM:N46.11;   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 ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:199,351,628...199,356,299
Ensembl chr 1:199,351,628...199,356,881
JBrowse link
G Brdt bromodomain testis associated susceptibility ISO DNA:SNP: :rs3088232(human) RGD PMID:22016351 RGD:9586360 NCBI chr14:3,437,876...3,462,613
Ensembl chr14:3,405,995...3,462,629
JBrowse link
G Brwd1 bromodomain and WD repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18353305 NCBI chr11:36,338,080...36,430,473
Ensembl chr11:36,337,635...36,430,413
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: therapeutic CTD PMID:16483355 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:22381205 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20833731 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:4607150 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr 3:148,772,937...148,813,342
Ensembl chr 3:148,773,259...148,813,293
JBrowse link
G Msh4 mutS homolog 4 ISO ClinVar Annotator: match by term: Oligospermia ClinVar PMID:25741868 NCBI chr 2:260,057,708...260,108,897
Ensembl chr 2:260,057,855...260,108,897
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29983398 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23384712 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Piwil4 piwi-like RNA-mediated gene silencing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20940137 NCBI chr 8:13,208,774...13,251,970
Ensembl chr 8:13,208,774...13,251,812
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Oligospermia ClinVar NCBI chr  X:15,064,733...15,088,579
Ensembl chr  X:15,064,594...15,088,589
JBrowse link
G Tpcn1 two pore segment channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24451262 NCBI chr12:41,507,784...41,566,847
Ensembl chr12:41,543,696...41,566,847
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 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868, PMID:31866047 NCBI chr 3:173,884,559...173,948,304
Ensembl chr 3:173,884,287...173,947,018
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: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070
OMIM
ClinVar
PMID:4344039, PMID:8220432, PMID:9271483, PMID:9280841, PMID:9624193, PMID:9806482, PMID:12161499, PMID:20488225, PMID:22791757, PMID:25052309, PMID:25741868, PMID:28392474, PMID:28492532 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
oligoasthenoteratozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata20 spermatogenesis associated 20 ISS MouseDO NCBI chr10:82,202,619...82,217,260
Ensembl chr10:82,202,605...82,209,459
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:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      reproductive system disease 2584
        male reproductive system disease 1783
          male infertility 177
            oligospermia 21
              CRYPTOZOOSPERMIA 2
              Young Syndrome 1
              hypogonadotropic hypogonadism 24 without anosmia 1
              oligoasthenoteratozoospermia 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              infertility 240
                male infertility 177
                  oligospermia 21
                    CRYPTOZOOSPERMIA 2
                    Young Syndrome 1
                    hypogonadotropic hypogonadism 24 without anosmia 1
                    oligoasthenoteratozoospermia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.