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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:short limbs
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Accession:MP:0000547 term browser browse the term
Definition:reduced average length of the extremities
Synonyms:exact_synonym: brachymelia;   decreased limb length;   reduced limb length
 alt_id: MP:0002542



show annotations for term's descendants           Sort by:
short limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110001C20Rik RIKEN cDNA 1110001C20 gene IAGP MGI PMID:18539921 PMID:18695242 PMID:23479625 PMID:30865697 NCBI chr 4:4,762,484...4,793,306
Ensembl chr 4:4,762,484...4,793,355
JBrowse link
G 2210008M09Rik RIKEN cDNA 2210008M09 gene IAGP MGI PMID:26371508 NCBI chr 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783
JBrowse link
G 2700049A03Rik RIKEN cDNA 2700049A03 gene IAGP MGI PMID:21750036 NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077
JBrowse link
G Acan aggrecan IEA MGI NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant IAGP MGI PMID:8898228 NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007
JBrowse link
G Adamtsl2 ADAMTS-like 2 IAGP MGI PMID:5713631 NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993
JBrowse link
G Ano6 anoctamin 6 IAGP MGI PMID:22936354 NCBI chr15:95,688,724...95,873,353
Ensembl chr15:95,688,724...95,872,632
JBrowse link
G Arsb arylsulfatase B IAGP MGI PMID:8710849 NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A IAGP MGI PMID:15781876 NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298
JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B IAGP MGI PMID:15781876 NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186
JBrowse link
G Cbfb core binding factor beta IAGP MGI PMID:12434152 PMID:12434155 NCBI chr 8:105,897,306...105,944,621
Ensembl chr 8:105,897,306...105,944,621
JBrowse link
G Cdc42 cell division cycle 42 IAGP MGI PMID:22387309 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031
JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C IAGP MGI PMID:9136926 NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787
JBrowse link
G Cer1 cerberus 1, DAN family BMP antagonist IAGP MGI PMID:11330864 NCBI chr 4:82,799,988...82,803,388
Ensembl chr 4:82,799,988...82,803,385
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:35418650 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Chst11 carbohydrate sulfotransferase 11 IAGP MGI PMID:16079159 NCBI chr10:82,820,274...83,031,738
Ensembl chr10:82,821,332...83,031,734
JBrowse link
G Chsy1 chondroitin sulfate synthase 1 IAGP MGI PMID:22280990 NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546
JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase IAGP MGI PMID:10195895 PMID:10346820 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 IAGP MGI PMID:24853502 PMID:28380258 PMID:29098359 NCBI chr 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389
JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 IAGP MGI PMID:11207362 NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078
JBrowse link
G Col27a1 collagen, type XXVII, alpha 1 IAGP MGI PMID:22206015 NCBI chr 4:63,132,246...63,253,228
Ensembl chr 4:63,132,241...63,253,228
JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:7276808 PMID:7590256 PMID:8989518 PMID:21538020 PMID:24475193 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Comp cartilage oligomeric matrix protein IAGP MGI PMID:17588960 NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716
JBrowse link
G Creb3l2 cAMP responsive element binding protein 3-like 2 IAGP MGI PMID:19767744 NCBI chr 6:37,307,956...37,419,083
Ensembl chr 6:37,304,190...37,419,081
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) IAGP MGI PMID:1262696 NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
JBrowse link
G Csf1r colony stimulating factor 1 receptor IAGP MGI PMID:11756160 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP MGI PMID:20812917 NCBI chr 8:68,809,433...69,188,270
Ensembl chr 8:68,809,433...69,187,798
JBrowse link
G Ctnnb1 catenin beta 1 IAGP MGI PMID:15132997 PMID:15371327 PMID:16854976 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 IAGP MGI PMID:24993042 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
JBrowse link
G Dll3 delta like canonical Notch ligand 3 IEA MGI NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Donson downstream neighbor of SON IAGP MGI PMID:37590370 NCBI chr16:91,463,744...91,485,702
Ensembl chr16:91,473,696...91,485,658
JBrowse link
G Dyrk2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 IAGP MGI PMID:32758357 NCBI chr10:118,691,507...118,725,144
Ensembl chr10:118,691,508...118,706,114
JBrowse link
G Edil3 EGF-like repeats and discoidin I-like domains 3 IAGP MGI PMID:19307312 NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342
JBrowse link
G Elavl1 ELAV like RNA binding protein 1 IAGP MGI PMID:19307312 NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413
JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 IAGP MGI PMID:26371508 NCBI chr 8:106,856,658...106,863,825
Ensembl chr 8:106,856,951...106,863,606
JBrowse link
G Evc EvC ciliary complex subunit 1 IAGP MGI PMID:17660199 PMID:23026747 NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238
JBrowse link
G Evc2 EvC ciliary complex subunit 2 IAGP MGI PMID:23026747 PMID:26219237 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399
JBrowse link
G Evx2 even-skipped homeobox 2 IAGP MGI PMID:8978698 NCBI chr 2:74,483,333...74,491,864
Ensembl chr 2:74,483,335...74,489,901
JBrowse link
G Fermt2 fermitin family member 2 IAGP MGI PMID:26151572 NCBI chr14:45,696,252...45,767,767
Ensembl chr14:45,696,252...45,767,575
JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP MGI PMID:23453598 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MGI PMID:12140681 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:10861287 PMID:11406607 PMID:14751559 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Fmn1 formin 1 IEA MGI NCBI chr 2:113,158,029...113,547,113
Ensembl chr 2:113,158,081...113,547,112
JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:25808752 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
JBrowse link
G Gas1 growth arrest specific 1 IAGP MGI PMID:17504940 NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179
JBrowse link
G Gdf5 growth differentiation factor 5 IAGP MGI PMID:908358 NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 IAGP MGI PMID:9006072 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IAGP MGI PMID:11978771 PMID:19906844 PMID:23644062 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
JBrowse link
G Gnas GNAS complex locus IAGP MGI PMID:15765186 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Gnpat glyceronephosphate O-acyltransferase IAGP MGI PMID:12874108 NCBI chr 8:125,589,772...125,616,796
Ensembl chr 8:125,589,772...125,616,796
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:17505543 PMID:18832070 PMID:19906844 PMID:29180569 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
JBrowse link
G Gus beta-glucuronidase complex IAGP MGI PMID:2495302 PMID:9774663 PMID:11228259 PMID:12403825 PMID:12700165 NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
JBrowse link
G Has2 hyaluronan synthase 2 IAGP MGI PMID:19633173 NCBI chr15:56,529,023...56,557,942
Ensembl chr15:56,529,023...56,557,935
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit IAGP MGI PMID:11691837 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
JBrowse link
G Hoxa13 homeobox A13 IAGP MGI PMID:8898214 NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788
JBrowse link
G Hoxd12 homeobox D12 IAGP MGI PMID:19108020 NCBI chr 2:74,505,357...74,508,049
Ensembl chr 2:74,505,357...74,508,049
JBrowse link
G Hoxd13 homeobox D13 IAGP MGI PMID:8898214 PMID:8978698 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943
JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) IAGP MGI PMID:10545953 PMID:10579729 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941
JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 IAGP MGI PMID:29174564 NCBI chr 7:140,528,871...140,530,156
Ensembl chr 7:140,528,871...140,530,204
JBrowse link
G Ift172 intraflagellar transport 172 IAGP MGI PMID:19521792 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460
JBrowse link
G Ift88 intraflagellar transport 88 IAGP MGI PMID:17166921 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393
JBrowse link
G Ihh Indian hedgehog IAGP MGI PMID:10465785 PMID:11748145 PMID:16278811 PMID:19906844 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
JBrowse link
G Il6st interleukin 6 signal transducer IAGP MGI PMID:14617570 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620
JBrowse link
G Irf6 interferon regulatory factor 6 IAGP MGI PMID:17041603 NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331
JBrowse link
G Kdf1 keratinocyte differentiation factor 1 IAGP MGI PMID:24075906 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101
JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B IAGP MGI PMID:25587042 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501
JBrowse link
G Kif3a kinesin family member 3A IAGP MGI PMID:17166921 NCBI chr11:53,456,531...53,495,075
Ensembl chr11:53,458,206...53,492,794
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 IAGP MGI PMID:19653321 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
JBrowse link
G Matn3 matrilin 3 IAGP MGI PMID:17517694 NCBI chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028
JBrowse link
G Mef2c myocyte enhancer factor 2C IAGP MGI PMID:17336904 NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199
JBrowse link
G Mia3 MIA SH3 domain ER export factor 3 IAGP MGI PMID:21606205 NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) IAGP MGI PMID:10737763 PMID:18022611 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
JBrowse link
G Mmp16 matrix metallopeptidase 16 IAGP MGI PMID:18022611 NCBI chr 4:17,853,072...18,117,479
Ensembl chr 4:17,852,893...18,119,145
JBrowse link
G Msx1 msh homeobox 1 IAGP MGI PMID:15930102 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
G Msx2 msh homeobox 2 IAGP MGI PMID:15930102 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110
JBrowse link
G n-TUtca2 nuclear encoded tRNA selenocysteine 2 (anticodon TCA) IAGP MGI PMID:19696890 NCBI chr 7:19,035,169...19,035,255 JBrowse link
G Nf1 neurofibromin 1 IAGP MGI PMID:21478499 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Nog noggin IAGP MGI PMID:9585504 PMID:11330864 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell IAGP MGI PMID:9843834 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Nppc natriuretic peptide type C IAGP MGI PMID:17439653 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293
JBrowse link
G Npr2 natriuretic peptide receptor 2 IAGP MGI PMID:5713631 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like IAGP MGI PMID:6682087 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120
JBrowse link
G oc osteosclerotic IAGP MGI PMID:10581033 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133
JBrowse link
G Ofd1 oral-facial-digital syndrome 1 gene homolog (human) IAGP MGI PMID:16311594 NCBI chr  X:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 IAGP MGI PMID:23479625 NCBI chr19:32,573,072...32,644,587
Ensembl chr19:32,573,190...32,644,587
JBrowse link
G Pax8 paired box 8 IAGP MGI PMID:17932107 NCBI chr 2:24,310,563...24,365,611
Ensembl chr 2:24,310,572...24,365,611
JBrowse link
G Pds5b PDS5 cohesin associated factor B IAGP MGI PMID:17652350 NCBI chr 5:150,597,178...150,734,174
Ensembl chr 5:150,597,204...150,734,155
JBrowse link
G Pkdcc protein kinase domain containing, cytoplasmic IAGP MGI PMID:19097194 PMID:19465597 PMID:21553379 NCBI chr17:83,522,708...83,532,496
Ensembl chr17:83,522,721...83,532,499
JBrowse link
G Porcn porcupine O-acyltransferase IAGP MGI PMID:21768372 PMID:22412863 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764
JBrowse link
G Ppib peptidylprolyl isomerase B IAGP MGI PMID:24968150 NCBI chr 9:65,967,451...65,973,911
Ensembl chr 9:65,967,504...65,973,905
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 IAGP MGI PMID:25190059 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha IAGP MGI PMID:27589370 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
JBrowse link
G Prkg2 protein kinase, cGMP-dependent, type II IAGP MGI PMID:8953039 NCBI chr 5:99,077,632...99,185,042
Ensembl chr 5:99,077,632...99,185,210
JBrowse link
G Prrx1 paired related homeobox 1 IAGP MGI PMID:18198333 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279
JBrowse link
G Pth parathyroid hormone IAGP MGI PMID:11994406 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
JBrowse link
G Pth1r parathyroid hormone 1 receptor IAGP MGI PMID:8662561 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213
JBrowse link
G Pthlh parathyroid hormone-like peptide IAGP MGI PMID:8314082 PMID:9751753 PMID:11994406 PMID:14751559 NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681
JBrowse link
G Rbl1 RB transcriptional corepressor like 1 IAGP MGI PMID:8682294 NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 IAGP MGI PMID:8682294 NCBI chr 8:91,796,685...91,850,472
Ensembl chr 8:91,796,685...91,850,472
JBrowse link
G Rgs10 regulator of G-protein signalling 10 IAGP MGI PMID:17626792 NCBI chr 7:127,975,345...128,020,993
Ensembl chr 7:127,975,345...128,020,482
JBrowse link
G Ror1 receptor tyrosine kinase-like orphan receptor 1 IAGP MGI PMID:22343533 NCBI chr 4:99,952,988...100,302,003
Ensembl chr 4:99,952,988...100,301,962
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 IAGP MGI PMID:10700181 PMID:17572674 PMID:22343533 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160
JBrowse link
G Rspo3 R-spondin 3 IAGP MGI PMID:22610508 NCBI chr10:29,329,102...29,411,863
Ensembl chr10:29,328,412...29,411,863
JBrowse link
G Runx2 runt related transcription factor 2 IAGP MGI PMID:9182763 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684
JBrowse link
G Ryk receptor-like tyrosine kinase IAGP MGI PMID:10932185 NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 IAGP MGI PMID:16960803 NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809
JBrowse link
G Sc5d sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog (S. cerevisae) IAGP MGI PMID:12812989 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552
JBrowse link
G Sfn stratifin IAGP MGI PMID:479550 PMID:16239341 NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479
JBrowse link
G Sfrp1 secreted frizzled-related protein 1 IAGP MGI PMID:16467359 NCBI chr 8:23,901,401...23,939,648
Ensembl chr 8:23,901,518...23,939,648
JBrowse link
G Sfrp2 secreted frizzled-related protein 2 IAGP MGI PMID:16467359 NCBI chr 3:83,673,628...83,681,621
Ensembl chr 3:83,673,628...83,681,623
JBrowse link
G Shh sonic hedgehog IAGP MGI PMID:8270769 PMID:23644062 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Shox2 SHOX homeobox 2 IAGP MGI PMID:16537395 NCBI chr 3:66,879,056...66,889,104
Ensembl chr 3:66,879,060...66,889,104
JBrowse link
G Slc35d1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IAGP MGI PMID:17952091 NCBI chr 4:103,027,846...103,078,208
Ensembl chr 4:103,027,846...103,072,361
JBrowse link
G Smo smoothened, frizzled class receptor IAGP MGI PMID:11748145 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 IAGP MGI PMID:11702786 PMID:18543318 NCBI chr 6:143,774,151...144,728,008
Ensembl chr 6:143,774,151...144,727,703
JBrowse link
G Sox6 SRY (sex determining region Y)-box 6 IAGP MGI PMID:11702786 PMID:18543318 NCBI chr 7:115,070,107...115,639,186
Ensembl chr 7:115,070,107...115,638,031
JBrowse link
G Sox9 SRY (sex determining region Y)-box 9 IAGP MGI PMID:12414734 NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586
JBrowse link
G Sp8 trans-acting transcription factor 8 IAGP MGI PMID:14597661 NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
JBrowse link
G Stk3 serine/threonine kinase 3 IAGP MGI PMID:20080598 NCBI chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067
JBrowse link
G Stk4 serine/threonine kinase 4 IAGP MGI PMID:20080598 NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444
JBrowse link
G Sumf1 sulfatase modifying factor 1 IAGP MGI PMID:17360554 NCBI chr 6:108,083,989...108,162,552
Ensembl chr 6:108,083,989...108,162,543
JBrowse link
G Thra thyroid hormone receptor alpha IAGP MGI PMID:17327419 NCBI chr11:98,631,539...98,659,832
Ensembl chr11:98,631,464...98,659,832
JBrowse link
G Thrb thyroid hormone receptor beta IAGP MGI PMID:17327419 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435
JBrowse link
G Tmem53 transmembrane protein 53 IAGP MGI PMID:33824347 NCBI chr 4:117,109,148...117,125,785
Ensembl chr 4:117,109,148...117,125,779
JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator IAGP MGI PMID:10500098 NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709
JBrowse link
G Tnnt3 troponin T3, skeletal, fast IAGP MGI PMID:23775847 NCBI chr 7:142,052,530...142,069,746
Ensembl chr 7:142,052,573...142,069,746
JBrowse link
G Trip11 thyroid hormone receptor interactor 11 IAGP MGI PMID:20089971 PMID:21214893 PMID:29180569 NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
JBrowse link
G Trp63 transformation related protein 63 IAGP MGI PMID:23775923 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
JBrowse link
G Tshr thyroid stimulating hormone receptor IAGP MGI PMID:17932107 NCBI chr12:91,367,767...91,507,283
Ensembl chr12:91,351,337...91,516,582
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 IAGP MGI PMID:15030764 NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
JBrowse link
G Twist2 twist basic helix-loop-helix transcription factor 2 IAGP MGI PMID:17336904 NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750
JBrowse link
G Vcan versican IAGP MGI PMID:20404343 NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628
JBrowse link
G Vps25 vacuolar protein sorting 25 IAGP MGI PMID:25373905 NCBI chr11:101,144,533...101,150,377
Ensembl chr11:101,144,533...101,150,375
JBrowse link
G Wdr11 WD repeat domain 11 IAGP MGI PMID:29263200 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462
JBrowse link
G Wls wntless WNT ligand secretion mediator IAGP MGI PMID:22377357 NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300
JBrowse link
G Wnt5a wingless-type MMTV integration site family, member 5A IAGP MGI PMID:10021340 PMID:19577771 PMID:22377357 NCBI chr14:28,224,962...28,249,405
Ensembl chr14:28,226,707...28,249,405
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IAGP MGI PMID:9389660 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
JBrowse link
decreased distal limb length term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta IAGP MGI PMID:17510210 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
micromelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen, type XI, alpha 1 IAGP MGI PMID:4100752 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367
JBrowse link
G Col2a1 collagen, type II, alpha 1 IAGP MGI PMID:21538020 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Cyp51 cytochrome P450, family 51 IAGP MGI PMID:21705796 NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746
JBrowse link
G Gdf5 growth differentiation factor 5 IEA MGI NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287
JBrowse link
G Npr2 natriuretic peptide receptor 2 IEA MGI NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Nubp2 nucleotide binding protein 2 IAGP MGI PMID:31733190 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323
JBrowse link
rhizomelic limb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 IAGP MGI PMID:8538792 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:28230213 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Xylt1 xylosyltransferase 1 IAGP MGI PMID:24161523 NCBI chr 7:116,980,214...117,266,853
Ensembl chr 7:116,980,214...117,272,803
JBrowse link
short forelimb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator IAGP MGI PMID:19356224 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase IAGP MGI PMID:10195896 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919
JBrowse link
G Col2a1 collagen, type II, alpha 1 IEA MGI NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Cyp26b1 cytochrome P450, 26, retinoic acid B1 IAGP MGI PMID:15030763 NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 IAGP MGI PMID:17254625 NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330
JBrowse link
G Gdf11 growth differentiation factor 11 IAGP MGI PMID:19298661 NCBI chr10:128,716,393...128,727,587
Ensembl chr10:128,718,164...128,727,587
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IAGP MGI PMID:23644062 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:18423204 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
JBrowse link
G Hdac8 histone deacetylase 8 IAGP MGI PMID:32800293 NCBI chr  X:101,328,244...101,549,005
Ensembl chr  X:101,328,245...101,548,965
JBrowse link
G Ihh Indian hedgehog IAGP MGI PMID:10465785 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
JBrowse link
G Irf6 interferon regulatory factor 6 IAGP MGI PMID:17041601 PMID:20196077 NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331
JBrowse link
G Kdf1 keratinocyte differentiation factor 1 IAGP MGI PMID:24075906 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101
JBrowse link
G Mstn myostatin IAGP MGI PMID:19298661 NCBI chr 1:53,100,799...53,107,238
Ensembl chr 1:53,100,799...53,107,238
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 IAGP MGI PMID:25190059 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
JBrowse link
G Rac1 Rac family small GTPase 1 IAGP MGI PMID:18423204 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
JBrowse link
G Rbl1 RB transcriptional corepressor like 1 IAGP MGI PMID:8682294 NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454
JBrowse link
G Rbl2 RB transcriptional corepressor like 2 IAGP MGI PMID:8682294 NCBI chr 8:91,796,685...91,850,472
Ensembl chr 8:91,796,685...91,850,472
JBrowse link
G Recql4 RecQ protein-like 4 IAGP MGI PMID:15703196 NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748
JBrowse link
G Tnni2 troponin I, skeletal, fast 2 IAGP MGI PMID:25340332 NCBI chr 7:141,995,553...141,998,147
Ensembl chr 7:141,995,545...141,998,147
JBrowse link
G Trp63 transformation related protein 63 IAGP MGI PMID:10227293 PMID:11857801 PMID:18326838 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A IEA MGI NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345
JBrowse link
short hindlimb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator IAGP MGI PMID:19356224 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Cyp26b1 cytochrome P450, 26, retinoic acid B1 IAGP MGI PMID:15030763 NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IAGP MGI PMID:23644062 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:17164415 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
JBrowse link
G Hoxd12 homeobox D12 IAGP MGI PMID:19108020 NCBI chr 2:74,505,357...74,508,049
Ensembl chr 2:74,505,357...74,508,049
JBrowse link
G Meox2 mesenchyme homeobox 2 IAGP MGI PMID:18519639 NCBI chr12:37,158,539...37,229,533
Ensembl chr12:37,158,539...37,229,533
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 IAGP MGI PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked IAGP MGI PMID:12414538 PMID:15029877 PMID:17710565 PMID:22527485 NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308
JBrowse link
G Pitx1 paired-like homeodomain transcription factor 1 IAGP MGI PMID:10049363 PMID:10101115 NCBI chr13:55,972,857...55,984,002
Ensembl chr13:55,972,864...55,984,005
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 IAGP MGI PMID:12194825 NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987
JBrowse link
G Rspo2 R-spondin 2 IAGP MGI PMID:22610508 NCBI chr15:42,884,184...43,034,990
Ensembl chr15:42,884,190...43,034,222
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 IAGP MGI PMID:16751105 NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809
JBrowse link
G Tbx3 T-box 3 IAGP MGI PMID:17460765 NCBI chr 5:119,808,600...119,822,789
Ensembl chr 5:119,808,734...119,822,789
JBrowse link
G Tbx4 T-box 4 IAGP MGI PMID:17164415 NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923
JBrowse link
G Tnni2 troponin I, skeletal, fast 2 IAGP MGI PMID:25340332 NCBI chr 7:141,995,553...141,998,147
Ensembl chr 7:141,995,545...141,998,147
JBrowse link
G Wnt3 wingless-type MMTV integration site family, member 3 IAGP MGI PMID:12569130 NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP MGI PMID:10835630 NCBI chr 9:48,563,097...48,747,525
Ensembl chr 9:48,565,597...48,747,522
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16954
    limbs/digits/tail phenotype 1581
      abnormal limb morphology 1293
        short limbs 163
          decreased distal limb length 1
          micromelia 6
          rhizomelic limb 3
          short forelimb 21
          short hindlimb 17
paths to the root