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ONTOLOGY REPORT - ANNOTATIONS


Term:abnormal clavicle morphology
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Accession:MP:0005298 term browser browse the term
Definition:any structural anomaly of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula
Synonyms:exact_synonym: abnormal collar bone morphology;   clavicle dysplasia


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abnormal clavicle morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 10 103,007,847 103,029,549 RGD:5509061
G Alx3 aristaless-like homeobox 3 JBrowse link 3 107,595,031 107,605,875 RGD:5509061
G Alx4 aristaless-like homeobox 4 JBrowse link 2 93,642,434 93,681,341 RGD:5509061
G Atf4 activating transcription factor 4 JBrowse link 15 80,255,184 80,257,545 RGD:5509061
G Cbfb core binding factor beta JBrowse link 8 105,170,674 105,217,989 RGD:5509061
G Cebpb CCAAT/enhancer binding protein (C/EBP), beta JBrowse link 2 167,688,915 167,690,432 RGD:5509061
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 10 127,048,246 127,054,884 RGD:5509061
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 2 122,298,900 122,302,885 RGD:5509061
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 7 130,162,451 130,266,808 RGD:5509061
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 16 38,089,001 38,246,084 RGD:5509061
G Hoxa3 homeobox A3 JBrowse link 6 52,169,059 52,213,067 RGD:5509061
G Ids iduronate 2-sulfatase JBrowse link X 70,343,069 70,385,834 RGD:5509061
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 7 140,948,958 140,950,243 RGD:5509061
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 2 33,560,965 33,641,208 RGD:5509061
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 7 66,258,745 66,388,341 RGD:5509061
G Mapkapk2 MAP kinase-activated protein kinase 2 JBrowse link 1 131,053,700 131,097,871 RGD:5509061
G Mllt3 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 JBrowse link 4 87,769,925 88,033,407 RGD:5509061
G P2rx4 purinergic receptor P2X, ligand-gated ion channel 4 JBrowse link 5 122,707,518 122,729,739 RGD:5509061
G Pbx1 pre B cell leukemia homeobox 1 JBrowse link 1 168,119,364 168,432,365 RGD:5509061
G Phospho1 phosphatase, orphan 1 JBrowse link 11 95,824,500 95,832,140 RGD:5509061
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 11 29,130,129 29,161,827 RGD:5509061
G Pthlh parathyroid hormone-like peptide JBrowse link 6 147,252,109 147,264,013 RGD:5509061
G Runx2 runt related transcription factor 2 JBrowse link 17 44,495,987 44,814,797 RGD:5509061
G Runx3 runt related transcription factor 3 JBrowse link 4 135,120,645 135,177,990 RGD:5509061
G Shh sonic hedgehog JBrowse link 5 28,456,840 28,467,101 RGD:5509061
G Smpd3 sphingomyelin phosphodiesterase 3, neutral JBrowse link 8 106,252,548 106,337,965 RGD:5509061
G Tgfb2 transforming growth factor, beta 2 JBrowse link 1 186,622,787 186,709,697 RGD:5509061
G Twist1 twist basic helix-loop-helix transcription factor 1 JBrowse link 12 33,957,671 33,959,831 RGD:5509061
G Zfp521 zinc finger protein 521 JBrowse link 18 13,687,013 13,972,749 RGD:5509061
absent clavicle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 10 103,007,847 103,029,549 RGD:5509061
G Alx4 aristaless-like homeobox 4 JBrowse link 2 93,642,434 93,681,341 RGD:5509061
G Cbfb core binding factor beta JBrowse link 8 105,170,674 105,217,989 RGD:5509061
G Runx2 runt related transcription factor 2 JBrowse link 17 44,495,987 44,814,797 RGD:5509061
G Tbx15 T-box 15 JBrowse link 3 99,240,348 99,354,260 RGD:5509061
G Tbx5 T-box 5 JBrowse link 5 119,796,514 119,885,220 RGD:5509061
G Tfap2a transcription factor AP-2, alpha JBrowse link 13 40,713,802 40,738,238 RGD:5509061
clavicle hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fermt2 fermitin family member 2 JBrowse link 14 45,458,792 45,530,310 RGD:5509061
G Hand2 heart and neural crest derivatives expressed 2 JBrowse link 8 57,320,983 57,324,517 RGD:5509061
G Hivep3 human immunodeficiency virus type I enhancer binding protein 3 JBrowse link 4 119,733,759 120,138,045 RGD:5509061
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 7 140,948,958 140,950,243 RGD:5509061
G Is(In8B2-8B3.1;6C1)1Tshir Insertion, Chr8 B2-B3.1 into Chr 6C1, Toshihiko Shiroishi 1 RGD:5509061
G Runx2 runt related transcription factor 2 JBrowse link 17 44,495,987 44,814,797 RGD:5509061
G Smad4 SMAD family member 4 JBrowse link 18 73,634,790 73,703,791 RGD:5509061
G Sp7 Sp7 transcription factor 7 JBrowse link 15 102,356,603 102,367,035 RGD:5509061
G Tle5 TLE family member 5, transcriptional modulator JBrowse link 10 81,559,444 81,566,371 RGD:5509061
G Twist1 twist basic helix-loop-helix transcription factor 1 JBrowse link 12 33,957,671 33,959,831 RGD:5509061
G Twist2 twist basic helix-loop-helix transcription factor 2 JBrowse link 1 91,801,461 91,848,034 RGD:5509061
G Zfp521 zinc finger protein 521 JBrowse link 18 13,687,013 13,972,749 RGD:5509061
small clavicle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit JBrowse link 1 136,052,806 136,119,822 RGD:5509061
G Fermt2 fermitin family member 2 JBrowse link 14 45,458,792 45,530,310 RGD:5509061
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 10 41,188,172 41,303,241 RGD:5509061
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 7 140,948,958 140,950,243 RGD:5509061
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 157,162,075 157,415,286 RGD:5509061
G Runx2 runt related transcription factor 2 JBrowse link 17 44,495,987 44,814,797 RGD:5509061
G Tbx15 T-box 15 JBrowse link 3 99,240,348 99,354,260 RGD:5509061

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 13565
    skeleton phenotype 2652
      abnormal skeleton morphology 2487
        abnormal appendicular skeleton morphology 839
          abnormal pectoral girdle bone morphology 280
            abnormal clavicle morphology 43
              absent clavicle 7
              small clavicle + 16
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.