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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:Female Infertility
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Accession:DOID:9007456 term browser browse the term
Definition:Diminished or absent ability of a female to achieve conception.
Synonyms:exact_synonym: Female Sterility;   Female Subfertility;   female sub-fertility;   postpartum sterility
 primary_id: MESH:D007247
 xref: EFO:0008560;   OMIM:PS615774


show annotations for term's descendants           Sort by:
Female Infertility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOR1 adiponectin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686 		JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235 		JBrowse link
G AFP alpha fetoprotein ISO RGD PMID:12297623 RGD:1300268 NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029422 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20200203 NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570 		JBrowse link
G BSG basigin ISO RGD PMID:9559645 RGD:734663 NCBI chr 2:77,735,586...77,743,451 JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21868453 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G CD9 CD9 molecule ISO RGD PMID:10634790 RGD:734730 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14684609 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: therapeutic CTD PMID:17519396 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34773530 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23710174 PMID:28520870 RGD:38548924 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G FANCC FA complementation group C ISO RGD PMID:8704201 RGD:1300317 NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801 		JBrowse link
G FSHB follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8220432 NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:19022436 RGD:10445839 NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:22143970 RGD:5685640 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19146775 RGD:2307422 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103 		JBrowse link
G LEFTY2 left-right determination factor 2 ISO RGD PMID:10902804 RGD:1598793 NCBI chr10:13,849,052...13,853,438
Ensembl chr10:13,848,174...13,853,438 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9457942 NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23407384 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16679164 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NASP nuclear autoantigenic sperm protein ISO RGD PMID:19219058 RGD:9590110 NCBI chr 6:165,773,964...165,804,978
Ensembl chr 6:165,770,055...165,805,383 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17590085 NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,124...83,090,535 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17409375 NCBI chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,865,364 		JBrowse link
G PAPPA pappalysin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130263 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19531635 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:24189967 RGD:11099991 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr 7:75,798,895...75,831,455
Ensembl chr 7:75,796,882...75,829,620 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28560483 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		JBrowse link
G STAG3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22532853 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:25189766 RGD:11568667 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
Oocyte Maturation Defect 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Oocyte maturation defect 1 ClinVar NCBI chr17:47,321,259...47,351,905
Ensembl chr17:47,321,264...47,350,556 		JBrowse link
Oocyte Maturation Defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZP3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: Oocyte maturation defect 3 OMIM
ClinVar		 PMID:25741868 PMID:28886344 PMID:30810869 NCBI chr 3:9,934,760...9,944,924
Ensembl chr 3:9,934,761...9,944,941 		JBrowse link
Oocyte Maturation Defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WEE2 WEE2 oocyte meiosis inhibiting kinase ISO ClinVar Annotator: match by term: Oocyte maturation defect 5 OMIM
ClinVar		 PMID:25741868 PMID:29606300 PMID:30628060 NCBI chr18:8,171,133...8,196,836
Ensembl chr18:8,171,138...8,195,957 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Oocyte maturation defect 10 OMIM
ClinVar		 PMID:31704776 NCBI chr 7:59,833,229...59,941,452
Ensembl chr 7:59,838,480...59,941,418 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTL astacin like metalloendopeptidase ISO ClinVar Annotator: match by term: Oocyte maturation defect 11 OMIM
ClinVar		 PMID:34704130 NCBI chr 3:47,058,104...47,071,681
Ensembl chr 3:47,059,040...47,070,664 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGS22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Oocyte maturation defect 12 OMIM
ClinVar		 PMID:34052850 PMID:34595750 NCBI chr 4:36,856,662...36,872,753
Ensembl chr 4:36,856,937...36,871,618 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFP36L2 ZFP36 ring finger protein like 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 13 OMIM
ClinVar		 PMID:34611029 NCBI chr 3:97,200,395...97,203,094
Ensembl chr 3:97,200,407...97,204,698 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC20 cell division cycle 20 ISO ClinVar Annotator: match by term: Oocyte maturation defect 14 OMIM
ClinVar		 PMID:25741868 PMID:32666501 PMID:33683667 PMID:33898437 PMID:34218387 NCBI chr 6:167,886,266...167,890,587
Ensembl chr 6:167,886,270...167,890,583 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLE6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 OMIM
ClinVar		 PMID:25741868 PMID:26537248 PMID:36271123 NCBI chr 2:75,537,641...75,550,676 JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 OMIM
ClinVar		 PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More... NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KPNA7 karyopherin subunit alpha 7 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29302074 PMID:36647821 NCBI chr 3:6,167,382...6,201,282
Ensembl chr 3:6,167,385...6,200,982 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP2 NLR family pyrin domain containing 2 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 OMIM
ClinVar		 PMID:25741868 PMID:30877238 NCBI chr 6:59,191,459...59,212,026 JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 OMIM
ClinVar		 PMID:30877238 PMID:35946397 NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOS MOS proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 20 OMIM
ClinVar		 PMID:34779126 PMID:34997960 PMID:35670744 PMID:36403623 NCBI chr 4:75,739,402...75,741,076
Ensembl chr 4:75,739,402...75,741,076 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21 OMIM
ClinVar		 PMID:25741868 PMID:33948904 PMID:33953335 NCBI chr 9:52,759,224...52,790,878
Ensembl chr 9:52,753,528...52,790,700 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZP2 zona pellucida glycoprotein 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 6 OMIM
ClinVar		 PMID:25741868 PMID:28971300 PMID:29895852 PMID:30810869 PMID:35211729 NCBI chr 3:24,863,730...24,877,522
Ensembl chr 3:24,863,730...24,877,522 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANX1 pannexin 1 ISO ClinVar Annotator: match by term: Oocyte maturation defect 7 OMIM
ClinVar		 PMID:25741868 PMID:30918116 NCBI chr 9:26,443,425...26,491,010
Ensembl chr 9:26,443,815...26,491,002 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Oocyte maturation defect 8 OMIM
ClinVar		 PMID:25741868 PMID:32502391 PMID:34647228 NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Oocyte maturation defect 9 OMIM
ClinVar		 PMID:25741868 PMID:32473092 NCBI chr16:79,458,843...79,473,705
Ensembl chr16:79,458,847...79,473,712 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      reproductive system disease 2901
        female reproductive system disease 1932
          infertility 365
            Female Infertility 63
              Oocyte Maturation Defect 1 1
              Oocyte Maturation Defect 2 0
              Oocyte Maturation Defect 3 1
              Oocyte Maturation Defect 4 0
              Oocyte Maturation Defect 5 1
              Oocyte/Zygote/Embryo Maturation Arrest 10 1
              Oocyte/Zygote/Embryo Maturation Arrest 11 1
              Oocyte/Zygote/Embryo Maturation Arrest 12 1
              Oocyte/Zygote/Embryo Maturation Arrest 13 1
              Oocyte/Zygote/Embryo Maturation Arrest 14 1
              Oocyte/Zygote/Embryo Maturation Arrest 15 1
              Oocyte/Zygote/Embryo Maturation Arrest 16 1
              Oocyte/Zygote/Embryo Maturation Arrest 17 1
              Oocyte/Zygote/Embryo Maturation Arrest 18 1
              Oocyte/Zygote/Embryo Maturation Arrest 19 1
              Oocyte/Zygote/Embryo Maturation Arrest 20 1
              Oocyte/Zygote/Embryo Maturation Arrest 21 1
              Oocyte/Zygote/Embryo Maturation Arrest 6 1
              Oocyte/Zygote/Embryo Maturation Arrest 7 1
              Oocyte/Zygote/Embryo Maturation Arrest 8 1
              Oocyte/Zygote/Embryo Maturation Arrest 9 1
              female infertility of uterine origin 0
Path 2
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      Urogenital Diseases 4711
        Female Urogenital Diseases and Pregnancy Complications 2362
          Female Urogenital Diseases 1935
            female reproductive system disease 1932
              infertility 365
                Female Infertility 63
                  Oocyte Maturation Defect 1 1
                  Oocyte Maturation Defect 2 0
                  Oocyte Maturation Defect 3 1
                  Oocyte Maturation Defect 4 0
                  Oocyte Maturation Defect 5 1
                  Oocyte/Zygote/Embryo Maturation Arrest 10 1
                  Oocyte/Zygote/Embryo Maturation Arrest 11 1
                  Oocyte/Zygote/Embryo Maturation Arrest 12 1
                  Oocyte/Zygote/Embryo Maturation Arrest 13 1
                  Oocyte/Zygote/Embryo Maturation Arrest 14 1
                  Oocyte/Zygote/Embryo Maturation Arrest 15 1
                  Oocyte/Zygote/Embryo Maturation Arrest 16 1
                  Oocyte/Zygote/Embryo Maturation Arrest 17 1
                  Oocyte/Zygote/Embryo Maturation Arrest 18 1
                  Oocyte/Zygote/Embryo Maturation Arrest 19 1
                  Oocyte/Zygote/Embryo Maturation Arrest 20 1
                  Oocyte/Zygote/Embryo Maturation Arrest 21 1
                  Oocyte/Zygote/Embryo Maturation Arrest 6 1
                  Oocyte/Zygote/Embryo Maturation Arrest 7 1
                  Oocyte/Zygote/Embryo Maturation Arrest 8 1
                  Oocyte/Zygote/Embryo Maturation Arrest 9 1
                  female infertility of uterine origin 0
paths to the root