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ONTOLOGY REPORT - ANNOTATIONS


Term:abnormal lumbar vertebrae morphology
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Accession:MP:0003049 term browser browse the term
Definition:any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae


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abnormal lumbar vertebrae morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain1 JBrowse link 15 64,086,840 64,382,941 RGD:5509061
G Axin1 axin 1 JBrowse link 17 26,131,217 26,195,811 RGD:5509061
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 12 71,309,884 71,320,107 RGD:5509061
G Dchs1 dachsous cadherin related 1 JBrowse link 7 105,752,989 105,788,355 RGD:5509061
G Dll3 delta like canonical Notch ligand 3 JBrowse link 7 28,293,555 28,301,785 RGD:5509061
G Dmrt2 doublesex and mab-3 related transcription factor 2 JBrowse link 19 25,672,394 25,679,013 RGD:5509061
G Etl4 enhancer trap locus 4 JBrowse link 2 19,910,207 20,810,535 RGD:5509061
G Fat4 FAT atypical cadherin 4 JBrowse link 3 38,884,667 39,011,992 RGD:5509061
G Fkbp8 FK506 binding protein 8 JBrowse link 8 70,527,710 70,535,328 RGD:5509061
G Gnai3 guanine nucleotide binding protein (G protein), alpha inhibiting 3 JBrowse link 3 108,107,275 108,146,152 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Hoxa10 homeobox A10 JBrowse link 6 52,231,197 52,240,854 RGD:5509061
G Hoxa11 homeobox A11 JBrowse link 6 52,242,105 52,245,810 RGD:5509061
G Hoxc10 homeobox C10 JBrowse link 15 102,966,796 102,971,898 RGD:5509061
G Hoxd10 homeobox D10 JBrowse link 2 74,684,273 74,695,106 RGD:5509061
G Hoxd11 homeobox D11 JBrowse link 2 74,679,558 74,687,016 RGD:5509061
G Hoxd9 homeobox D9 JBrowse link 2 74,697,763 74,700,208 RGD:5509061
G Igf2 insulin-like growth factor 2 JBrowse link 7 142,650,768 142,666,816 RGD:5509061
G Is(In8B2-8B3.1;6C1)1Tshir Insertion, Chr8 B2-B3.1 into Chr 6C1, Toshihiko Shiroishi 1 RGD:5509061
G Lasp1 LIM and SH3 protein 1 JBrowse link 11 97,799,005 97,838,765 RGD:5509061
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 5 140,607,341 140,615,545 RGD:5509061
G Lrp5 low density lipoprotein receptor-related protein 5 JBrowse link 19 3,584,825 3,686,585 RGD:5509061
G Lrp6 low density lipoprotein receptor-related protein 6 JBrowse link 6 134,446,476 134,566,913 RGD:5509061
G n-TUtca2 nuclear encoded tRNA selenocysteine 2 (anticodon TCA) JBrowse link 7 19,301,244 19,301,329 RGD:5509061
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing JBrowse link 8 84,670,477 84,687,862 RGD:5509061
G Nkx3-1 NK3 homeobox 1 JBrowse link 14 69,190,692 69,194,658 RGD:5509061
G Nkx3-2 NK3 homeobox 2 JBrowse link 5 41,761,483 41,764,220 RGD:5509061
G Pax1 paired box 1 JBrowse link 2 147,361,930 147,375,049 RGD:5509061
G Prrx1 paired related homeobox 1 JBrowse link 1 163,245,119 163,315,145 RGD:5509061
G Prrx2 paired related homeobox 2 JBrowse link 2 30,845,064 30,881,251 RGD:5509061
G Pyy peptide YY JBrowse link 11 102,106,676 102,107,832 RGD:5509061
G Qrfpr pyroglutamylated RFamide peptide receptor JBrowse link 3 36,179,426 36,222,275 RGD:5509061
G Rara retinoic acid receptor, alpha JBrowse link 11 98,927,800 98,974,942 RGD:5509061
G Rarg retinoic acid receptor, gamma JBrowse link 15 102,234,938 102,257,522 RGD:5509061
G Scube3 signal peptide, CUB domain, EGF-like 3 JBrowse link 17 28,142,100 28,174,851 RGD:5509061
G Sox11 SRY (sex determining region Y)-box 11 JBrowse link 12 27,334,268 27,342,718 RGD:5509061
G Sox4 SRY (sex determining region Y)-box 4 JBrowse link 13 28,948,919 28,953,699 RGD:5509061
G Sp5 trans-acting transcription factor 5 JBrowse link 2 70,474,923 70,477,726 RGD:5509061
G Sp8 trans-acting transcription factor 8 JBrowse link 12 118,846,288 118,852,578 RGD:5509061
G T brachyury, T-box transcription factor T JBrowse link 17 8,434,423 8,442,496 RGD:5509061
G Tbx18 T-box18 JBrowse link 9 87,702,800 87,731,260 RGD:5509061
G Tbx6 T-box 6 JBrowse link 7 126,781,483 126,785,548 RGD:5509061
G Usp14 ubiquitin specific peptidase 14 JBrowse link 18 9,993,615 10,030,149 RGD:5509061
G Zmpste24 zinc metallopeptidase, STE24 JBrowse link 4 121,059,237 121,098,249 RGD:5509061
absent lumbar vertebrae term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa10 homeobox A10 JBrowse link 6 52,231,197 52,240,854 RGD:5509061
G Hoxc10 homeobox C10 JBrowse link 15 102,966,796 102,971,898 RGD:5509061
G Hoxd10 homeobox D10 JBrowse link 2 74,684,273 74,695,106 RGD:5509061
decreased lumbar vertebrae number term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 JBrowse link 5 3,927,736 4,080,204 RGD:5509061
G Arl4d ADP-ribosylation factor-like 4D JBrowse link 11 101,665,541 101,667,832 RGD:5509061
G Asxl1 additional sex combs like 1 JBrowse link 2 153,345,830 153,404,007 RGD:5509061
G Bmp7 bone morphogenetic protein 7 JBrowse link 2 172,868,012 172,940,321 RGD:5509061
G Brdt bromodomain, testis-specific JBrowse link 5 107,331,116 107,387,061 RGD:5509061
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 4 8,690,402 8,868,449 RGD:5509061
G Dll1 delta like canonical Notch ligand 1 JBrowse link 17 15,367,354 15,376,927 RGD:5509061
G Dscc1 DNA replication and sister chromatid cohesion 1 JBrowse link 15 55,076,101 55,090,491 RGD:5509061
G Dusp4 dual specificity phosphatase 4 JBrowse link 8 34,807,610 34,819,894 RGD:5509061
G Efna1 ephrin A1 JBrowse link 3 89,271,730 89,280,951 RGD:5509061
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,518,759 25,575,718 RGD:5509061
G Fst follistatin JBrowse link 13 114,452,262 114,458,989 RGD:5509061
G Gsk3a glycogen synthase kinase 3 alpha JBrowse link 7 25,228,258 25,237,851 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Hotair HOX transcript antisense RNA (non-protein coding) JBrowse link 15 102,944,062 102,947,946 RGD:5509061
G Hoxd11 homeobox D11 JBrowse link 2 74,679,558 74,687,016 RGD:5509061
G Kat2a K(lysine) acetyltransferase 2A JBrowse link 11 100,704,746 100,712,485 RGD:5509061
G Kmt5b lysine methyltransferase 5B JBrowse link 19 3,767,362 3,818,303 RGD:5509061
G Lasp1 LIM and SH3 protein 1 JBrowse link 11 97,799,005 97,838,765 RGD:5509061
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 5 140,607,341 140,615,545 RGD:5509061
G Mta1 metastasis associated 1 JBrowse link 12 113,098,248 113,137,206 RGD:5509061
G Noto notochord homeobox JBrowse link 6 85,423,886 85,428,877 RGD:5509061
G Nrarp Notch-regulated ankyrin repeat protein JBrowse link 2 25,180,758 25,183,339 RGD:5509061
G Phf20 PHD finger protein 20 JBrowse link 2 156,196,647 156,309,953 RGD:5509061
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta JBrowse link 9 99,038,402 99,140,235 RGD:5509061
G Polr1e polymerase (RNA) I polypeptide E JBrowse link 4 45,018,609 45,034,279 RGD:5509061
G Ppp5c protein phosphatase 5, catalytic subunit JBrowse link 7 17,004,640 17,027,914 RGD:5509061
G Psip1 PC4 and SFRS1 interacting protein 1 JBrowse link 4 83,455,680 83,486,463 RGD:5509061
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 3 96,172,506 96,177,564 RGD:5509061
G Sgo1 shugoshin 1 JBrowse link 17 53,674,786 53,691,331 RGD:5509061
G Spns2 spinster homolog 2 JBrowse link 11 72,451,638 72,489,976 RGD:5509061
G Stx8 syntaxin 8 JBrowse link 11 67,966,411 68,207,148 RGD:5509061
G Usp42 ubiquitin specific peptidase 42 JBrowse link 5 143,710,325 143,759,753 RGD:5509061
G Wfikkn1 WAP, FS, Ig, KU, and NTR-containing protein 1 JBrowse link 17 25,877,628 25,880,858 RGD:5509061
G Wnt3a wingless-type MMTV integration site family, member 3A JBrowse link 11 59,248,036 59,290,751 RGD:5509061
enlarged lumbar vertebrae term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 2 125,300,594 125,506,485 RGD:5509061
increased lumbar vertebrae number term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fst follistatin JBrowse link 13 114,452,262 114,458,989 RGD:5509061
G Gdf11 growth differentiation factor 11 JBrowse link 10 128,880,524 128,891,718 RGD:5509061
G Hoxa11 homeobox A11 JBrowse link 6 52,242,105 52,245,810 RGD:5509061
G Hoxd11 homeobox D11 JBrowse link 2 74,679,558 74,687,016 RGD:5509061
G Mstn myostatin JBrowse link 1 53,061,640 53,068,079 RGD:5509061
G Rpl24 ribosomal protein L24 JBrowse link 16 55,966,275 55,971,437 RGD:5509061
G Wfikkn1 WAP, FS, Ig, KU, and NTR-containing protein 1 JBrowse link 17 25,877,628 25,880,858 RGD:5509061
G Wfikkn2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 JBrowse link 11 94,235,951 94,247,793 RGD:5509061
lumbar vertebral fusion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Axin1 axin 1 JBrowse link 17 26,131,217 26,195,811 RGD:5509061
G Dmrt2 doublesex and mab-3 related transcription factor 2 JBrowse link 19 25,672,394 25,679,013 RGD:5509061
G Gnai1 guanine nucleotide binding protein (G protein), alpha inhibiting 1 JBrowse link 5 18,265,135 18,360,413 RGD:5509061
G Gnai2 guanine nucleotide binding protein (G protein), alpha inhibiting 2 JBrowse link 9 107,614,125 107,635,391 RGD:5509061
G Gnai3 guanine nucleotide binding protein (G protein), alpha inhibiting 3 JBrowse link 3 108,107,275 108,146,152 RGD:5509061
G Mesp2 mesoderm posterior 2 JBrowse link 7 79,810,727 79,813,431 RGD:5509061
G Ndc1 NDC1 transmembrane nucleoporin JBrowse link 4 107,367,784 107,416,346 RGD:5509061
G Nrarp Notch-regulated ankyrin repeat protein JBrowse link 2 25,180,758 25,183,339 RGD:5509061
G Psen1 presenilin 1 JBrowse link 12 83,688,152 83,735,095 RGD:5509061
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 6 65,042,591 65,116,061 RGD:5509061
G Sox9 SRY (sex determining region Y)-box 9 JBrowse link 11 112,782,210 112,787,757 RGD:5509061
G Sulf1 sulfatase 1 JBrowse link 1 12,692,197 12,861,192 RGD:5509061
G Sulf2 sulfatase 2 JBrowse link 2 166,073,899 166,155,683 RGD:5509061
G Tacc3 transforming, acidic coiled-coil containing protein 3 JBrowse link 5 33,658,128 33,672,203 RGD:5509061
G Tenm4 teneurin transmembrane protein 4 JBrowse link 7 96,171,244 96,911,093 RGD:5509061
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:5509061
lumbar vertebral transformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2a activin receptor IIA JBrowse link 2 48,814,109 48,903,264 RGD:5509061
G Acvr2b activin receptor IIB JBrowse link 9 119,401,583 119,442,148 RGD:5509061
G Asxl2 additional sex combs like 2, transcriptional regulator JBrowse link 12 3,426,857 3,510,811 RGD:5509061
G Bmi1 Bmi1 polycomb ring finger oncogene JBrowse link 2 18,677,018 18,686,629 RGD:5509061
G Cdx2 caudal type homeobox 2 JBrowse link 5 147,300,900 147,307,249 RGD:5509061
G Cdx4 caudal type homeobox 4 JBrowse link X 103,321,398 103,330,224 RGD:5509061
G Dnmt3b DNA methyltransferase 3B JBrowse link 2 153,649,411 153,687,730 RGD:5509061
G E2f6 E2F transcription factor 6 JBrowse link 12 16,810,909 16,826,752 RGD:5509061
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,518,759 25,575,718 RGD:5509061
G Gdf11 growth differentiation factor 11 JBrowse link 10 128,880,524 128,891,718 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Hotair HOX transcript antisense RNA (non-protein coding) JBrowse link 15 102,944,062 102,947,946 RGD:5509061
G Hoxa10 homeobox A10 JBrowse link 6 52,231,197 52,240,854 RGD:5509061
G Hoxa5 homeobox A5 JBrowse link 6 52,201,754 52,204,587 RGD:5509061
G Hoxa9 homeobox A9 JBrowse link 6 52,223,097 52,227,370 RGD:5509061
G Hoxb9 homeobox B9 JBrowse link 11 96,271,330 96,276,595 RGD:5509061
G Hoxc homeobox C cluster RGD:5509061
G Hoxc10 homeobox C10 JBrowse link 15 102,966,796 102,971,898 RGD:5509061
G Hoxc8 homeobox C8 JBrowse link 15 102,990,539 102,994,275 RGD:5509061
G Hoxc9 homeobox C9 JBrowse link 15 102,977,032 102,984,444 RGD:5509061
G Hoxd10 homeobox D10 JBrowse link 2 74,684,273 74,695,106 RGD:5509061
G Hoxd8 homeobox D8 JBrowse link 2 74,704,615 74,707,933 RGD:5509061
G Hoxd9 homeobox D9 JBrowse link 2 74,697,763 74,700,208 RGD:5509061
G Kat2a K(lysine) acetyltransferase 2A JBrowse link 11 100,704,746 100,712,485 RGD:5509061
G Kmt2a lysine (K)-specific methyltransferase 2A JBrowse link 9 44,803,355 44,881,352 RGD:5509061
G Mir196a-2 microRNA 196a-2 JBrowse link 15 102,973,350 102,973,434 RGD:5509061
G Mir196b microRNA 196b JBrowse link 6 52,230,081 52,230,165 RGD:5509061
G Mtf2 metal response element binding transcription factor 2 JBrowse link 5 108,065,660 108,109,219 RGD:5509061
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing JBrowse link 8 84,670,477 84,687,862 RGD:5509061
G Nbl1 NBL1, DAN family BMP antagonist JBrowse link 4 139,082,291 139,093,126 RGD:5509061
G Ndrg2 N-myc downstream regulated gene 2 JBrowse link 14 51,905,271 51,914,004 RGD:5509061
G Nog noggin JBrowse link 11 89,300,638 89,302,559 RGD:5509061
G Pcgf2 polycomb group ring finger 2 JBrowse link 11 97,688,821 97,702,434 RGD:5509061
G Pgap1 post-GPI attachment to proteins 1 JBrowse link 1 54,473,000 54,557,684 RGD:5509061
G Phc1 polyhomeotic 1 JBrowse link 6 122,317,731 122,340,227 RGD:5509061
G Phc2 polyhomeotic 2 JBrowse link 4 128,654,655 128,752,881 RGD:5509061
G Pnn pinin JBrowse link 12 59,066,919 59,074,017 RGD:5509061
G Psip1 PC4 and SFRS1 interacting protein 1 JBrowse link 4 83,455,680 83,486,463 RGD:5509061
G Qdpr quinoid dihydropteridine reductase JBrowse link 5 45,434,032 45,450,229 RGD:5509061
G Rara retinoic acid receptor, alpha JBrowse link 11 98,927,800 98,974,942 RGD:5509061
G Rarb retinoic acid receptor, beta JBrowse link 14 16,430,839 17,082,331 RGD:5509061
G Rpl38 ribosomal protein L38 JBrowse link 11 114,667,818 114,672,333 RGD:5509061
G Rps7 ribosomal protein S7 JBrowse link 12 28,630,847 28,635,953 RGD:5509061
G Sf3b1 splicing factor 3b, subunit 1 JBrowse link 1 54,985,169 55,027,501 RGD:5509061
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 3 96,172,506 96,177,564 RGD:5509061
G Suz12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 11 79,993,106 80,034,123 RGD:5509061
G Tapt1 transmembrane anterior posterior transformation 1 JBrowse link 5 44,175,154 44,231,163 RGD:5509061
G Tasp1 taspase, threonine aspartase 1 JBrowse link 2 139,833,479 140,066,847 RGD:5509061
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,911 73,649,843 RGD:5509061
G Wnt3a wingless-type MMTV integration site family, member 3A JBrowse link 11 59,248,036 59,290,751 RGD:5509061
G Zbtb16 zinc finger and BTB domain containing 16 JBrowse link 9 48,651,797 48,836,225 RGD:5509061
short lumbar vertebrae term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 14 56,526,761 56,575,489 RGD:5509061
G Col2a1 collagen, type II, alpha 1 JBrowse link 15 97,975,602 98,004,724 RGD:5509061
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 5 33,721,724 33,737,068 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 JBrowse link 3 89,436,675 89,450,952 RGD:5509061
G Poc1a POC1 centriolar protein A JBrowse link 9 106,279,443 106,350,522 RGD:5509061
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 13 53,109,317 53,286,124 RGD:5509061
G Usp14 ubiquitin specific peptidase 14 JBrowse link 18 9,993,615 10,030,149 RGD:5509061

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 14668
    skeleton phenotype 2940
      abnormal skeleton morphology 2763
        abnormal axial skeleton morphology 1520
          abnormal vertebral column morphology 876
            abnormal vertebrae morphology 597
              abnormal presacral vertebrae morphology 259
                abnormal lumbar vertebrae morphology 153
                  absent lumbar vertebrae 3
                  decreased lumbar vertebrae number 35
                  enlarged lumbar vertebrae 1
                  increased lumbar vertebrae number 8
                  lumbar vertebral fusion 16
                  lumbar vertebral transformation 51
                  short lumbar vertebrae 8
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.