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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:Abnormality of the upper arm
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Accession:HP:0001454 term browser browse the term
Synonyms:xref: UMLS:C4025776



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Abnormality of the humeral metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Abnormality of the humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP ORPHA:1263 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP ORPHA:1275 HPO NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ORPHA:1275 HPO NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SHOX short stature homeobox IAGP OMIM:127300 ORPHA:240 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 TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TBX5 T-box transcription factor 5 IAGP ORPHA:392 HPO NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ORPHA:1328 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Absent humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Aplasia/hypoplasia of the humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 ORPHA:3320 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
Biceps aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
Bifid humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:256050 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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 OMIM:609465 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 long bone in upper arm 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 OMIM:272460 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 OMIM:619479 HPO NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP OMIM:210710 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 OMIM:618022 HPO NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
Cortical subperiosteal resorption of humeral metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ORPHA:94089 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G STX16 syntaxin 16 IAGP ORPHA:94089 HPO NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,253...58,679,526
JBrowse link
Epiphyseal stippling of the humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP ORPHA:56305 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Flared humeral metaphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP OMIM:277590 HPO NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:156530 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Flattened humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TONSL tonsoku like, DNA repair protein IAGP ORPHA:93357 HPO NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
Flattened humeral heads term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:166011 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Humeral pseudarthrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein IAGP ORPHA:2044 HPO NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
Humeroradial synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP OMIM:614416 HPO NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP OMIM:251230 HPO NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G FGF9 fibroblast growth factor 9 IAGP OMIM:612961 HPO NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:101600 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 OMIM:101600 OMIM:207410 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:610017 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G NOG noggin IAGP OMIM:186570 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP OMIM:201750 OMIM:207410 ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP OMIM:151050 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G TBX15 T-box transcription factor 15 IAGP ORPHA:93333 HPO NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:276820 ORPHA:2879 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
JBrowse link
Humerus varus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
Hypoplastic distal humeri term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP OMIM:164745 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GPC6 glypican 6 IAGP OMIM:258315 ORPHA:93329 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
Multicentric ossification of proximal humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin IAGP OMIM:223800 HPO NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
Prominent deltoid tuberosities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKG2 protein kinase cGMP-dependent 2 IAGP OMIM:619636 HPO NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
Proximal upper limb amyotrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin IAGP ORPHA:98863 HPO NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP OMIM:609115 HPO NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
JBrowse link
G LMNA lamin A/C IAGP ORPHA:98853 ORPHA:98855 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ORPHA:466768 HPO NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G SGCD sarcoglycan delta IAGP ORPHA:219 HPO NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TCAP titin-cap IAGP OMIM:601954 HPO NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
Scapulohumeral synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSC goosecoid homeobox IAGP OMIM:602471 HPO NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
JBrowse link
Short humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP OMIM:600121 HPO NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP OMIM:607143 HPO NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP OMIM:304150 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G FANCB FA complementation group B IAGP OMIM:314390 HPO NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FLNA filamin A IAGP OMIM:309350 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 OMIM:108720 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FZD2 frizzled class receptor 2 IAGP OMIM:164745 ORPHA:93328 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:200700 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP OMIM:222765 HPO NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
JBrowse link
G GPC6 glypican 6 IAGP OMIM:258315 HPO NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G GSC goosecoid homeobox IAGP OMIM:602471 HPO NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
JBrowse link
G IFT122 intraflagellar transport 122 IAGP OMIM:218330 HPO NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KIAA0753 KIAA0753 IAGP OMIM:619479 HPO NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:200500 ORPHA:931 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP OMIM:600373 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP ORPHA:508542 HPO NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090
JBrowse link
G NOG noggin IAGP OMIM:186500 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP OMIM:616716 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:264090 ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP OMIM:218600 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP OMIM:117650 HPO NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP ORPHA:17 HPO NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
G TBX3 T-box transcription factor 3 IAGP OMIM:181450 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TBX5 T-box transcription factor 5 IAGP OMIM:142900 HPO NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP OMIM:239000 HPO NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:314390 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link
Stippled calcification proximal humeral epiphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPAT glyceronephosphate O-acyltransferase IAGP OMIM:222765 HPO NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
JBrowse link
Triceps aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP OMIM:161200 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
Varus deformity of humeral neck term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP OMIM:252500 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
Wide humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM251 transmembrane protein 251 IAGP OMIM:619345 HPO NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of limbs 2377
        Abnormality of the upper limb 1694
          Abnormality of the upper arm 69
            Abnormality of the humerus + 58
            Abnormality of the musculature of the upper arm + 11
paths to the root