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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:Limb pain
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Accession:HP:0009763 term browser browse the term
Definition:Chronic pain in the limbs with no clear focal etiology.
Synonyms:related_synonym: Pain in extremities
 xref: SNOMEDCT_US:90834002;   UMLS:C0030196



show annotations for term's descendants           Sort by:
 
Limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP ORPHA:36386 HPO NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G ATL3 atlastin GTPase 3 IAGP ORPHA:36386 HPO NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921
JBrowse link
G CCND1 cyclin D1 IAGP ORPHA:892 HPO NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:8533761 PMID:8845168 PMID:10737121 PMID:12163078 PMID:25741868 More... NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:287 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:93315 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ORPHA:287 HPO NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ORPHA:287 HPO NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G CPOX coproporphyrinogen oxidase IAGP ORPHA:79273 HPO NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G FN1 fibronectin 1 IAGP ORPHA:93315 HPO NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ORPHA:79276 HPO NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:18414213 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP OMIM:612067 HPO NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Pain in extremities ClinVar PMID:25741868 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP ORPHA:36386 HPO NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP ORPHA:36386 HPO NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:131300 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP OMIM:192315 HPO NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ORPHA:892 HPO NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Ankle pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ORPHA:166119 HPO NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP OMIM:166300 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MATN3 matrilin 3 IAGP ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
Foot pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 IAGP ORPHA:79400 HPO NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ORPHA:79400 HPO NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G MFN2 mitofusin 2 IAGP ORPHA:99947 HPO NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
Hand pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP OMIM:619161 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G IDUA alpha-L-iduronidase IAGP OMIM:607015 HPO NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
Knee pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP ORPHA:314652 HPO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ORPHA:100998 HPO NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:94068 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP OMIM:614135 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:166002 HPO NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP OMIM:600969 HPO NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ORPHA:477 HPO NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP ORPHA:477 HPO NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G MATN3 matrilin 3 IAGP ORPHA:93311 HPO NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP OMIM:167100 HPO NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
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
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP ORPHA:93284 HPO NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
Lower limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP ORPHA:1855 HPO NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:447753 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP ORPHA:401785 HPO NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP ORPHA:447753 HPO NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346
JBrowse link
G HEPHL1 hephaestin like 1 IAGP OMIM:261990 HPO NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ORPHA:199354 HPO NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G KRT16 keratin 16 IAGP ORPHA:2309 HPO NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP ORPHA:2309 HPO NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT6A keratin 6A IAGP ORPHA:2309 HPO NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP ORPHA:2309 HPO NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
G MME membrane metalloendopeptidase IAGP OMIM:617018 HPO NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ORPHA:320360 HPO NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ORPHA:1349 HPO NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Lower limb pain ClinVar PMID:12428213 PMID:15111675 PMID:25741868 PMID:28492532 PMID:30055862 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP OMIM:611762 HPO NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403
JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Lower limb pain ClinVar PMID:12428213 PMID:15111675 PMID:25741868 PMID:28492532 PMID:30055862 NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP OMIM:612067 ORPHA:210571 HPO NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ORPHA:90307 HPO NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ORPHA:99013 HPO NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP OMIM:131300 HPO NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Upper limb pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP ORPHA:370348 HPO NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G KRT14 keratin 14 IAGP ORPHA:79400 HPO NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP ORPHA:79400 HPO NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G MFN2 mitofusin 2 IAGP ORPHA:99947 HPO NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
Wrist pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP ORPHA:314652 HPO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP OMIM:166300 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Constitutional symptom 1113
        Pain 763
          Limb pain 59
            Lower limb pain + 39
            Upper limb pain + 8
Path 2
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Abnormality of musculoskeletal physiology 1600
            Limb pain 59
              Lower limb pain + 39
              Upper limb pain + 8
paths to the root