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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Bowing of the arm
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Accession:HP:0006488 term browser browse the term
Definition:A bending or abnormal curvature affecting a long bone of the arm.
Synonyms:exact_synonym: Bending of the arm
 xref: UMLS:C0426863


show annotations for term's descendants           Sort by:
Bowing of the arm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
Bowed forearm bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 IAGP HPO NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
Bowed humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Bowed humerus ClinVar PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNB filamin B IAGP HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LBR lamin B receptor IAGP HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
Radial bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G LBR lamin B receptor IAGP HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G PCNT pericentrin IAGP HPO NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Radial bowing ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SHOX short stature homeobox IAGP HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Ulnar bowing term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FLNA filamin A IAGP HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G PCNT pericentrin IAGP HPO NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Ulnar bowing ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SHOX short stature homeobox IAGP HPO NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of limbs 2484
        Abnormality of the upper limb 1772
          Bowing of the arm 42
            Bowed forearm bones + 35
            Bowed humerus 8
Path 2
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the musculoskeletal system 4320
        Abnormality of the skeletal system 3490
          Abnormal skeletal morphology 3371
            Abnormal appendicular skeleton morphology 1912
              Abnormal long bone morphology 772
                Abnormal diaphysis morphology 330
                  Bowing of the long bones 302
                    Bowing of the arm 42
                      Bowed forearm bones + 35
                      Bowed humerus 8
paths to the root