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: abnormal long bone diaphysis morphology
Accession: MP:0004214
browse the term
Definition: any structural anomaly of the main or mid section (shaft) of a long bone
Synonyms: exact_synonym: abnormal long bone shaft morphology
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Adamtsl2
ADAMTS-like 2
IAGP
MGI
PMID:30738849
NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993
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Alk
anaplastic lymphoma kinase
IAGP
MGI
PMID:24811761
NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
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Ano5
anoctamin 5
IAGP
MGI
PMID:30712070
NCBI chr 7:51,160,668...51,248,459
Ensembl chr 7:51,160,777...51,248,457
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Bgn
biglycan
IAGP
MGI
PMID:9731537
NCBI chr X:72,527,207...72,539,542
Ensembl chr X:72,527,208...72,539,539
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Bmp1
bone morphogenetic protein 1
IAGP
MGI
PMID:24419319
NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674
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Bmp2
bone morphogenetic protein 2
IAGP
MGI
PMID:17194222
NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805
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Bmp4
bone morphogenetic protein 4
IAGP
MGI
PMID:17194222
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Cbfb
core binding factor beta
IAGP
MGI
PMID:16940420
NCBI chr 8:105,897,306...105,944,621
Ensembl chr 8:105,897,306...105,944,621
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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
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Ctsk
cathepsin K
IAGP
MGI
PMID:9811821 PMID:16753017
NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673
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Edil3
EGF-like repeats and discoidin I-like domains 3
IAGP
MGI
PMID:22615579
NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342
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Fam20c
FAM20C, golgi associated secretory pathway kinase
IAGP
MGI
PMID:22615579
NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
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Fgfr3
fibroblast growth factor receptor 3
IAGP
MGI
PMID:10861287 PMID:28230213
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Gli3
GLI-Kruppel family member GLI3
IAGP
MGI
PMID:19906844
NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
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Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
IAGP
MGI
PMID:24127423
NCBI chr10:88,215,130...88,283,186
Ensembl chr10:88,214,994...88,283,191
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Gpc6
glypican 6
IAGP
MGI
PMID:28696225
NCBI chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956
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Gsn
gelsolin
IAGP
MGI
PMID:10684249
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:19906844 PMID:20010698
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
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Hck
hemopoietic cell kinase
IAGP
MGI
PMID:8634424
NCBI chr 2:152,950,388...152,993,361
Ensembl chr 2:152,950,388...152,993,361
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Ids
iduronate 2-sulfatase
IAGP
MGI
PMID:17876721
NCBI chr X:69,386,675...69,429,437
Ensembl chr X:69,386,675...69,408,690
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Idua
iduronidase, alpha-L
IAGP
MGI
PMID:9660052
NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
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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
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Ihh
Indian hedgehog
IAGP
MGI
PMID:19906844
NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831
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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
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Itln1
intelectin 1 (galactofuranose binding)
IAGP
MGI
PMID:29619269
NCBI chr 1:171,345,691...171,362,893
Ensembl chr 1:171,345,690...171,362,862
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Kdr
kinase insert domain protein receptor
IAGP
MGI
PMID:20010698
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Lrp5
low density lipoprotein receptor-related protein 5
IAGP
MGI
PMID:17147489
NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564
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Ndor1
NADPH dependent diflavin oxidoreductase 1
IAGP
MGI
PMID:24419319
NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034 Ensembl chr 2:25,134,833...25,146,034 Ensembl chr 2:25,134,833...25,146,034
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Ofd1
OFD1, centriole and centriolar satellite protein
IAGP
MGI
PMID:20920500
NCBI chr X:165,171,503...165,223,704
Ensembl chr X:165,173,029...165,223,700
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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
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Ptpn9
protein tyrosine phosphatase, non-receptor type 9
IAGP
MGI
PMID:16330817
NCBI chr 9:56,902,252...56,970,092
Ensembl chr 9:56,902,207...56,970,091
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Sfrp2
secreted frizzled-related protein 2
IAGP
MGI
PMID:18446812
NCBI chr 3:83,673,628...83,681,621
Ensembl chr 3:83,673,628...83,681,623
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Smad4
SMAD family member 4
IAGP
MGI
PMID:24006258
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Src
Rous sarcoma oncogene
IAGP
MGI
PMID:1997203 PMID:8634424
NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782
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Thra
thyroid hormone receptor alpha
IAGP
MGI
PMID:24914936
NCBI chr11:98,631,539...98,659,832
Ensembl chr11:98,631,464...98,659,832
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Tll1
tolloid-like
IAGP
MGI
PMID:24419319
NCBI chr 8:64,466,132...64,659,043
Ensembl chr 8:64,467,965...64,659,305
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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
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Trpv5
transient receptor potential cation channel, subfamily V, member 5
IAGP
MGI
PMID:14679186
NCBI chr 6:41,628,595...41,658,158
Ensembl chr 6:41,629,107...41,657,703
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