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ONTOLOGY REPORT - ANNOTATIONS


Term:premature ovarian failure
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Accession:DOID:5426 term browser browse the term
Definition:Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.
Synonyms:exact_synonym: FMR1 related primary ovarian insufficiency;   Gonadotropin Resistant Ovary Syndrome;   POF;   POF1;   POFX;   Premature Ovarian Failure 1;   Premature Ovarian Failure, X Linked;   X linked hypergonadotropic ovarian failure;   fragile X associated primary ovarian insufficiency;   fragile X premature ovarian failure;   premature ovarian insufficiency;   primary ovarian insufficiency;   resistant ovary syndrome
 primary_id: MESH:D016649
 alt_id: OMIM:311360;   RDO:0000256
 xref: ICD10CM:E28.3;   NCI:C113352;   OMIM:PS311360;   ORDO:619
For additional species annotation, visit the Alliance of Genome Resources.


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premature ovarian failure term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Amhr2 anti-Mullerian hormone receptor type 2 JBrowse link 7 144,052,202 144,060,678 RGD:8554872
G Bbs9 Bardet-Biedl syndrome 9 JBrowse link 8 23,491,929 24,074,524 RGD:9684994
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:1599496
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
G Camsap2 calmodulin regulated spectrin-associated protein family, member 2 JBrowse link 13 53,145,712 53,225,349 RGD:8554872
G Ccnt2 cyclin T2 JBrowse link 13 44,475,959 44,516,892 RGD:8554872
G Cdc7 cell division cycle 7 JBrowse link 14 3,826,658 3,846,891 RGD:8554872
G Cenpi centromere protein I JBrowse link X 105,147,045 105,198,798 RGD:8554872
G Ckb creatine kinase B JBrowse link 6 136,142,956 136,145,838 RGD:8554872
G Crocc ciliary rootlet coiled-coil, rootletin JBrowse link 5 159,540,453 159,583,194 RGD:8554872
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11554173
G Ddi1 DNA-damage inducible 1 homolog 1 JBrowse link 8 4,547,725 4,549,573 RGD:8554872
G Diaph2 diaphanous-related formin 2 JBrowse link X 99,722,910 100,363,228 RGD:1601071
RGD:13592920
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah6 dynein, axonemal, heavy chain 6 JBrowse link 4 100,936,834 101,157,511 RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:8554872
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:8554872
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:11344888
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:11344915
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:13592920
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:8554872
G Figla folliculogenesis specific bHLH transcription factor JBrowse link 4 117,679,256 117,683,618 RGD:8554872
RGD:13592920
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:11554173
G Foxk2 forkhead box K2 JBrowse link 10 110,468,905 110,518,854 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:13592920
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:8554872
G Grem1 gremlin 1, DAN family BMP antagonist JBrowse link 3 105,203,309 105,214,989 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
G Hfm1 helicase for meiosis 1 JBrowse link 14 3,879,172 3,961,139 RGD:13592920
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 20 34,818,093 34,930,157 RGD:8554872
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:8554872
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
G Nobox NOBOX oogenesis homeobox JBrowse link 4 72,749,239 72,757,066 RGD:8554872
RGD:13592920
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11554173
G Ntrk3 neurotrophic receptor tyrosine kinase 3 JBrowse link 1 139,890,537 140,262,503 RGD:8554872
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
G Nup155 nucleoporin 155 JBrowse link 2 57,206,665 57,258,242 RGD:8554872
G Pdgfd platelet derived growth factor D JBrowse link 8 4,441,010 4,666,754 RGD:8554872
G Pof1b POF1B, actin binding protein JBrowse link X 84,099,618 84,167,717 RGD:13592920
RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694202
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:8554872
G Rec8 REC8 meiotic recombination protein JBrowse link 15 34,296,922 34,304,387 RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:8554872
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 JBrowse link 10 94,451,866 94,460,732 RGD:8554872
G Sox3 SRY-box transcription factor 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
G Ssh1 slingshot protein phosphatase 1 JBrowse link 12 48,403,184 48,447,964 RGD:8554872
G Stag1 stromal antigen 1 JBrowse link 8 108,958,099 109,342,738 RGD:8554872
G Stag3 stromal antigen 3 JBrowse link 12 19,599,741 19,630,775 RGD:8554872
RGD:13592920
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8554872
G Ttc16 tetratricopeptide repeat domain 16 JBrowse link 3 11,799,788 11,811,600 RGD:8554872
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 JBrowse link 5 157,848,162 157,956,137 RGD:8554872
G Usp53 ubiquitin specific peptidase 53 JBrowse link 2 227,098,795 227,160,385 RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Xpnpep2 X-prolyl aminopeptidase 2 JBrowse link X 134,940,656 134,969,874 RGD:11554173
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11041728
Premature Ovarian Failure 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor JBrowse link 3 125,470,499 125,500,795 RGD:8554872
RGD:7240710
Premature Ovarian Failure 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:7240710
Premature Ovarian Failure 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syce1 synaptonemal complex central element protein 1 JBrowse link 1 213,523,638 213,534,641 RGD:8554872
RGD:7240710
Premature Ovarian Failure 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msh5 mutS homolog 5 JBrowse link 20 5,020,690 5,037,125 RGD:8554872
RGD:7240710
Premature Ovarian Failure 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:8554872
RGD:7240710
Premature Ovarian Failure 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:8554872
RGD:7240710
Premature Ovarian Failure 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bnc1 basonuclin 1 JBrowse link 1
1
143,793,280
143,869,440
143,818,748
143,878,077
RGD:7240710
RGD:8554872
Premature Ovarian Failure 2a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph2 diaphanous-related formin 2 JBrowse link X 99,722,910 100,363,228 RGD:7240710
Premature Ovarian Failure 2b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pof1b POF1B, actin binding protein JBrowse link X 84,099,618 84,167,717 RGD:7240710
RGD:8554872
G Zfp711 zinc finger protein 711 JBrowse link X 84,062,363 84,095,888 RGD:8554872
Premature Ovarian Failure 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:7240710
RGD:8554872
Premature Ovarian Failure 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nobox NOBOX oogenesis homeobox JBrowse link 4 72,749,239 72,757,066 RGD:7240710
RGD:8554872
Premature Ovarian Failure 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Figla folliculogenesis specific bHLH transcription factor JBrowse link 4 117,679,256 117,683,618 RGD:7240710
RGD:8554872
Premature Ovarian Failure 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:7240710
RGD:8554872
Premature Ovarian Failure 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stag3 stromal antigen 3 JBrowse link 12 19,599,741 19,630,775 RGD:7240710
RGD:8554872
Premature Ovarian Failure 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hfm1 helicase for meiosis 1 JBrowse link 14 3,879,172 3,961,139 RGD:7240710
RGD:8554872
Primary Ovarian Insufficiency, Fragile X-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:12050152

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      endocrine system disease 4837
        gonadal disease 857
          ovarian disease 650
            premature ovarian failure 71
              Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
              Premature Ovarian Failure 10 1
              Premature Ovarian Failure 11 1
              Premature Ovarian Failure 12 1
              Premature Ovarian Failure 13 1
              Premature Ovarian Failure 14 1
              Premature Ovarian Failure 15 1
              Premature Ovarian Failure 16 1
              Premature Ovarian Failure 2a 1
              Premature Ovarian Failure 2b 2
              Premature Ovarian Failure 3 1
              Premature Ovarian Failure 5 1
              Premature Ovarian Failure 6 1
              Premature Ovarian Failure 7 1
              Premature Ovarian Failure 8 1
              Premature Ovarian Failure 9 1
              Premature Ovarian Failure, Familial 0
              Primary Ovarian Insufficiency, Fragile X-Associated 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Urogenital Diseases 4016
        Female Urogenital Diseases and Pregnancy Complications 1762
          Female Urogenital Diseases 1472
            female reproductive system disease 1468
              Adnexal Diseases 656
                ovarian disease 650
                  premature ovarian failure 71
                    Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                    Premature Ovarian Failure 10 1
                    Premature Ovarian Failure 11 1
                    Premature Ovarian Failure 12 1
                    Premature Ovarian Failure 13 1
                    Premature Ovarian Failure 14 1
                    Premature Ovarian Failure 15 1
                    Premature Ovarian Failure 16 1
                    Premature Ovarian Failure 2a 1
                    Premature Ovarian Failure 2b 2
                    Premature Ovarian Failure 3 1
                    Premature Ovarian Failure 5 1
                    Premature Ovarian Failure 6 1
                    Premature Ovarian Failure 7 1
                    Premature Ovarian Failure 8 1
                    Premature Ovarian Failure 9 1
                    Premature Ovarian Failure, Familial 0
                    Primary Ovarian Insufficiency, Fragile X-Associated 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.