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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 Achilles tendon
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Accession:HP:0005109 term browser browse the term
Definition:An abnormality of the Achilles tendon.
Synonyms:exact_synonym: Abnormality of the calcaneal tendon
 xref: UMLS:C4021642


show annotations for term's descendants           Sort by:
Abnormality of the Achilles tendon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 IAGP HPO ORPHA:401780 NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:34515 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GAN gigaxonin IAGP HPO ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PRKCG protein kinase C gamma IAGP HPO ORPHA:98763 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:431329 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
Achilles tendon calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho IAGP HPO MIM:617994 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Achilles tendon contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP HPO MIM:612674 NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:616852 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:607225 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Achilles tendon contracture ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:255600 ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DMD dystrophin IAGP HPO MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:160150 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G EMD emerin IAGP HPO MIM:310300 ORPHA:98863 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 HPO MIM:300695 MIM:300696 ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:606612 MIM:607155 ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Achilles tendon contracture ClinVar
HPO		 PMID:16096811 PMID:21291455 PMID:22243284 PMID:25388846 PMID:25741868 More... MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:10080180 MIM:181350 MIM:613205 ORPHA:98853 ORPHA:98855, RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:620323 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO MIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO MIM:160150 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYOT myotilin IAGP HPO MIM:609200 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO MIM:611091 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:210000 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO MIM:615418 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:620528 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 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 HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TTN titin IAGP HPO MIM:603689 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Thickened Achilles tendon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of limbs 3147
        Abnormality of the lower limb 2184
          Abnormal foot morphology 1564
            Abnormality of the Achilles tendon 65
              Achilles tendon calcification 2
              Achilles tendon contracture 55
              Thickened Achilles tendon 3
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8651
          Abnormal skeletal morphology 8067
            Abnormal tendon morphology 1165
              Abnormality of the Achilles tendon 65
                Achilles tendon calcification 2
                Achilles tendon contracture 55
                Thickened Achilles tendon 3
paths to the root