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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:Myositis
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Accession:HP:0100614 term browser browse the term
Definition:A general term for inflammation of the muscles without respect to the underlying cause.
Comment:Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis.
Synonyms:exact_synonym: Muscle inflammation
 xref: EFO:0000783;   SNOMEDCT_US:128496001;   SNOMEDCT_US:26889001;   UMLS:C0027121


show annotations for term's descendants           Sort by:
Myositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO MIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CAPN3 calpain 3 IAGP HPO MIM:253600 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Myositis ClinVar PMID:25741868 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:multiple
DNA:polymorphism, haplotype:cds:HLA-DQA1*05		 RGD PMID:9550481 PMID:17586554 PMID:16609350 RGD:5147869, RGD:5147629, RGD:5147793 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*02 RGD PMID:17586554 RGD:5147629 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism:cds:HLA-DRB1*0301
DNA:polymorphisms, haplotypes:cds:HLA-DRB1*02, HLA-DRB1*03
DNA:polymorphisms:multiple		 RGD PMID:16609350 PMID:17586554 PMID:21125283 RGD:5147793, RGD:5147629, RGD:5147568 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO MIM:615422 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO MIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:617591 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNP:intron: (rs7582694) HPO
RGD		 PMID:24632671 ORPHA:117 ORPHA:93552, RGD:8661720 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO MIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO MIM:142680 ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the musculature 3720
          Abnormal skeletal muscle morphology 2412
            Myositis 107
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the immune system 10729
        Abnormality of immune system physiology 8028
          Abnormal inflammatory response 5916
            Increased inflammatory response 5889
              Myositis 107
paths to the root