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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:Osteomyelitis
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Accession:HP:0002754 term browser browse the term
Definition:Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Comment:Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.
Synonyms:exact_synonym: Bone infection
 alt_id: HP:0002755;   HP:0005901
 xref: EFO:0003102;   SNOMEDCT_US:111253001;   SNOMEDCT_US:60168000;   UMLS:C0029443;   UMLS:C2242472


show annotations for term's descendants           Sort by:
Osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO MIM:166260 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO MIM:613708 ORPHA:36386 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP HPO MIM:615632 ORPHA:36386 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C2orf69 chromosome 2 open reading frame 69 IAGP HPO MIM:619423 NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935 		JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:210110 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 IAGP HPO ORPHA:453510 NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719 		JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO MIM:233690 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO MIM:306400 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:614116 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EN1 engrailed homeobox 1 IAGP HPO MIM:619218 NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO ORPHA:88628 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		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 GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:29207 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with Anemia, Sickle Cell, DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 RGD PMID:18312480 RGD:11041747 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO MIM:615978 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:301081 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 IAGP HPO MIM:259680 NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP HPO MIM:612852 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP HPO MIM:116920 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G LPIN2 lipin 2 IAGP HPO MIM:609628 ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G MCTS1 MCTS1 re-initiation and release factor IAGP HPO MIM:301115 NCBI chr  X:120,604,101...120,621,159
Ensembl chr  X:120,594,010...120,621,159 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO MIM:233700 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO MIM:233710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NGF nerve growth factor IAGP HPO MIM:608654 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO MIM:256800 ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PIGH phosphatidylinositol glycan anchor biosynthesis class H IAGP HPO MIM:618010 NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:33110 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLEKHM1 pleckstrin homology and RUN domain containing M1 IAGP HPO ORPHA:210110 NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO MIM:613115 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:171876 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:171876 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO ORPHA:33110 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO ORPHA:33110 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:162400 ORPHA:36386 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 HPO MIM:613640 ORPHA:36386 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO MIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO ORPHA:33110 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 ORPHA:210110 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO MIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
Foot osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCT5 chaperonin containing TCP1 subunit 5 IAGP HPO MIM:256840 ORPHA:139578 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family IAGP HPO MIM:600882 NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:162400 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
Mandibular osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:53697 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:166600 ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
Osteomyelitis leading to amputation due to slow healing fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Osteomyelitis leading to amputation due to slow healing fractures ClinVar PMID:21194679 PMID:25741868 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
Salmonella osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNGR1 interferon gamma receptor 1 IAGP HPO MIM:209950 MIM:615978 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP HPO ORPHA:319552 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormal musculoskeletal physiology 1998
          Osteomyelitis 67
            Foot osteomyelitis 3
            Mandibular osteomyelitis 3
            Osteomyelitis leading to amputation due to slow healing fractures 3
            Salmonella osteomyelitis 2
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the immune system 10707
        Abnormality of immune system physiology 8003
          Abnormal inflammatory response 5893
            Increased inflammatory response 5866
              Osteomyelitis 67
                Foot osteomyelitis 3
                Mandibular osteomyelitis 3
                Osteomyelitis leading to amputation due to slow healing fractures 3
                Salmonella osteomyelitis 2
paths to the root