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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   osteomyelitis
  

Disease ID 948
Disease osteomyelitis
Definition
INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA.
Synonym
a bacterial infection of the bone or bone marrow
om - osteomyelitis
osteomyelitides
osteomyelitis (disorder)
osteomyelitis [ambiguous]
osteomyelitis [disease/finding]
osteomyelitis nos-unspec
osteomyelitis, nos
ostm - osteomyelitis
pyogenic inflammation of bone
pyogenic inflammation of bone, nos
unspecified osteomyelitis
unspecified osteomyelitis (disorder)
unspecified osteomyelitis nos
unspecified osteomyelitis nos (disorder)
unspecified osteomyelitis of unspecified site
unspecified osteomyelitis of unspecified site (disorder)
unspecified osteomyelitis, site unspecified
DOID
UMLS
C0029443
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:101)
C0002895  |  sickle cell disease  |  12
C0270629  |  epidural abscess  |  9
C0011847  |  diabetes  |  7
C0032285  |  pneumonia  |  6
C0003864  |  arthritis  |  6
C0003874  |  septic arthritis  |  4
C0025289  |  meningitis  |  4
C0010346  |  crohn's disease  |  4
C0029454  |  osteopetrosis  |  3
C0041296  |  tuberculosis  |  3
C1704275  |  pyomyositis  |  3
C0011849  |  diabetes mellitus  |  3
C0040053  |  thrombosis  |  3
C0023418  |  leukemia  |  3
C0024110  |  lung abscess  |  3
C0024299  |  lymphoma  |  3
C0238402  |  pycnodysostosis  |  2
C0238124  |  necrotizing fasciitis  |  2
C0023449  |  acute lymphoblastic leukemia  |  2
C0263859  |  sapho syndrome  |  2
C0029464  |  osteosclerosis  |  2
C0007137  |  squamous cell carcinoma  |  2
C0025229  |  melioidosis  |  2
C0028242  |  nocardiosis  |  2
C0034065  |  pulmonary embolism  |  2
C0442874  |  neuropathy  |  2
C0023448  |  lymphoblastic leukemia  |  2
C0031111  |  periostitis  |  2
C0007642  |  cellulitis  |  2
C0021355  |  otitis externa  |  2
C0017205  |  gaucher disease  |  1
C0004623  |  bacterial infection  |  1
C0040896  |  trichinellosis  |  1
C0038013  |  ankylosing spondylitis  |  1
C0001339  |  acute pancreatitis  |  1
C0034212  |  pyoderma  |  1
C0019196  |  hepatitis c  |  1
C0162871  |  abdominal aortic aneurysm  |  1
C0019621  |  langerhans cell histiocytosis  |  1
C0011881  |  diabetic nephropathy  |  1
C0085652  |  pyoderma gangrenosum  |  1
C0011127  |  pressure sores  |  1
C0376358  |  prostate cancer  |  1
C0027947  |  neutropenia  |  1
C0553580  |  ewing sarcoma  |  1
C0010414  |  cryptococcus neoformans  |  1
C0021053  |  immune disorder  |  1
C0008513  |  chorioretinitis  |  1
C0019360  |  herpes zoster  |  1
C0006309  |  brucellosis  |  1
C0272187  |  leukocyte adhesion deficiency  |  1
C0917715  |  hajdu-cheney syndrome  |  1
C0009324  |  ulcerative colitis  |  1
C0009447  |  common variable immunodeficiency  |  1
C0010674  |  cystic fibrosis  |  1
C0012813  |  diverticulitis  |  1
C0030305  |  pancreatitis  |  1
C0553730  |  calcium pyrophosphate dihydrate crystal deposition disease  |  1
C0040046  |  thrombophlebitis  |  1
C0014118  |  endocarditis  |  1
C0019618  |  histiocytosis  |  1
C0041318  |  tuberculous meningitis  |  1
C0019158  |  hepatitis  |  1
C0014236  |  endophthalmitis  |  1
C0678222  |  breast carcinoma  |  1
C0032285  |  pneumoniae  |  1
C1961099  |  t-cell acute lymphoblastic leukemia  |  1
C0024904  |  mastoiditis  |  1
C0030409  |  paracoccidioidomycosis  |  1
C0015029  |  ethmoid sinusitis  |  1
C0001175  |  acquired immunodeficiency syndrome  |  1
C0039503  |  tendinitis  |  1
C0016735  |  frontal sinusitis  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0019360  |  zoster  |  1
C0024110  |  lung abscesses  |  1
C0001623  |  adrenal insufficiency  |  1
C0039103  |  synovitis  |  1
C0009186  |  coccidioidomycosis  |  1
C0079731  |  b-cell lymphoma  |  1
C0012624  |  spondylodiscitis  |  1
C0042373  |  vascular disease  |  1
C0079744  |  diffuse large b-cell lymphoma  |  1
C0022658  |  nephropathy  |  1
C0011854  |  type 1 diabetes  |  1
C0037199  |  sinusitis  |  1
C0020492  |  hyperostosis  |  1
C0026691  |  kawasaki disease  |  1
C1565489  |  renal insufficiency  |  1
C0039319  |  tarsal tunnel syndrome  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
C0155862  |  pneumococcal pneumonia  |  1
C0007361  |  cat scratch disease  |  1
C0343525  |  lemierre syndrome  |  1
C0023448  |  lymphocytic leukemia  |  1
C1261473  |  sarcoma  |  1
C0018203  |  chronic granulomatous disease  |  1
C0024790  |  paroxysmal nocturnal hemoglobinuria  |  1
C0035021  |  recurrent fever  |  1
C0038012  |  spondylitis  |  1
C0014038  |  encephalitis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:5)
581  |  BAX  |  CIPHER
3552  |  IL1A  |  CIPHER
3565  |  IL4  |  CIPHER
3569  |  IL6  |  CIPHER
4846  |  NOS3  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:107)
65985  |  AACS  |  1.417  |  DISEASES
84890  |  ADO  |  1.418  |  DISEASES
249  |  ALPL  |  1.261  |  DISEASES
262  |  AMD1  |  1.201  |  DISEASES
9179  |  AP4M1  |  1.669  |  DISEASES
1822  |  ATN1  |  2.012  |  DISEASES
23545  |  ATP6V0A2  |  2.402  |  DISEASES
617  |  BCS1L  |  1.205  |  DISEASES
632  |  BGLAP  |  2.98  |  DISEASES
650  |  BMP2  |  3.326  |  DISEASES
655  |  BMP7  |  1.363  |  DISEASES
6046  |  BRD2  |  1.713  |  DISEASES
720  |  C4A  |  1.443  |  DISEASES
721  |  C4B  |  1.387  |  DISEASES
796  |  CALCA  |  2.19  |  DISEASES
799  |  CALCR  |  1.357  |  DISEASES
64170  |  CARD9  |  1.88  |  DISEASES
834  |  CASP1  |  2.553  |  DISEASES
841  |  CASP8  |  1.182  |  DISEASES
10575  |  CCT4  |  1.703  |  DISEASES
959  |  CD40LG  |  2.665  |  DISEASES
1186  |  CLCN7  |  3.032  |  DISEASES
9074  |  CLDN6  |  1.42  |  DISEASES
2920  |  CXCL2  |  1.103  |  DISEASES
1536  |  CYBB  |  1.94  |  DISEASES
192668  |  CYS1  |  2.005  |  DISEASES
414325  |  DEFB103A  |  2.522  |  DISEASES
55894  |  DEFB103B  |  2.521  |  DISEASES
100289462  |  DEFB4B  |  1.974  |  DISEASES
151871  |  DPPA2  |  1.674  |  DISEASES
2098  |  ESD  |  1.131  |  DISEASES
54751  |  FBLIM1  |  1.931  |  DISEASES
23014  |  FBXO21  |  2.833  |  DISEASES
389549  |  FEZF1  |  1.088  |  DISEASES
8928  |  FOXH1  |  1.312  |  DISEASES
2517  |  FUCA1  |  1.298  |  DISEASES
2526  |  FUT4  |  1.86  |  DISEASES
2591  |  GALNT3  |  2.925  |  DISEASES
2731  |  GLDC  |  1.177  |  DISEASES
2239  |  GPC4  |  1.606  |  DISEASES
51512  |  GTSE1  |  1.751  |  DISEASES
9001  |  HAP1  |  1.345  |  DISEASES
3043  |  HBB  |  2.108  |  DISEASES
81502  |  HM13  |  1.311  |  DISEASES
3240  |  HP  |  2.019  |  DISEASES
3329  |  HSPD1  |  1.603  |  DISEASES
338376  |  IFNE  |  1.606  |  DISEASES
3459  |  IFNGR1  |  4.299  |  DISEASES
8517  |  IKBKG  |  2.193  |  DISEASES
3586  |  IL10  |  1.754  |  DISEASES
3594  |  IL12RB1  |  3.124  |  DISEASES
29949  |  IL19  |  1.751  |  DISEASES
9636  |  ISG15  |  1.448  |  DISEASES
102723508  |  KANTR  |  1.766  |  DISEASES
57614  |  KIAA1468  |  2.971  |  DISEASES
64900  |  LPIN3  |  1.931  |  DISEASES
8972  |  MGAM  |  2.272  |  DISEASES
4514  |  MT-CO3  |  1.344  |  DISEASES
4615  |  MYD88  |  1.282  |  DISEASES
4772  |  NFATC1  |  1.49  |  DISEASES
27247  |  NFU1  |  1.754  |  DISEASES
114548  |  NLRP3  |  3.015  |  DISEASES
2649  |  NR6A1  |  1.067  |  DISEASES
4914  |  NTRK1  |  1.805  |  DISEASES
220323  |  OAF  |  1.794  |  DISEASES
5155  |  PDGFB  |  1.88  |  DISEASES
23556  |  PIGN  |  1.083  |  DISEASES
5453  |  POU3F1  |  1.262  |  DISEASES
5530  |  PPP3CA  |  3.469  |  DISEASES
9051  |  PSTPIP1  |  2.748  |  DISEASES
9050  |  PSTPIP2  |  5.248  |  DISEASES
5745  |  PTH1R  |  1.805  |  DISEASES
5789  |  PTPRD  |  1.86  |  DISEASES
80324  |  PUS1  |  1.697  |  DISEASES
5923  |  RASGRF1  |  1.263  |  DISEASES
11317  |  RBPJL  |  2.419  |  DISEASES
51109  |  RDH11  |  2.573  |  DISEASES
6164  |  RPL34  |  2.633  |  DISEASES
860  |  RUNX2  |  2.423  |  DISEASES
6280  |  S100A9  |  1.009  |  DISEASES
286205  |  SCAI  |  1.094  |  DISEASES
619383  |  SCARNA9  |  3.144  |  DISEASES
871  |  SERPINH1  |  1.63  |  DISEASES
29072  |  SETD2  |  1.847  |  DISEASES
6452  |  SH3BP2  |  2.07  |  DISEASES
9467  |  SH3BP5  |  2.151  |  DISEASES
23583  |  SMUG1  |  4.685  |  DISEASES
26769  |  SNORD81  |  4.191  |  DISEASES
29887  |  SNX10  |  1.734  |  DISEASES
51429  |  SNX9  |  1.444  |  DISEASES
6696  |  SPP1  |  2.212  |  DISEASES
6708  |  SPTA1  |  1.234  |  DISEASES
6772  |  STAT1  |  2.169  |  DISEASES
6789  |  STK4  |  1.492  |  DISEASES
25870  |  SUMF2  |  3.519  |  DISEASES
7018  |  TF  |  1.037  |  DISEASES
284486  |  THEM5  |  1.111  |  DISEASES
51337  |  THEM6  |  1.279  |  DISEASES
7099  |  TLR4  |  1.22  |  DISEASES
7124  |  TNF  |  3.34  |  DISEASES
8792  |  TNFRSF11A  |  2.231  |  DISEASES
7133  |  TNFRSF1B  |  2.255  |  DISEASES
7156  |  TOP3A  |  1.519  |  DISEASES
11169  |  WDHD1  |  1.357  |  DISEASES
644150  |  WIPF3  |  2.045  |  DISEASES
340152  |  ZC3H12D  |  1.802  |  DISEASES
90576  |  ZNF799  |  3.26  |  DISEASES
Locus(Waiting for update.)
Disease ID 948
Disease osteomyelitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:76)
HP:0100806  |  Sepsis  |  7
HP:0001369  |  Arthritis  |  7
HP:0002090  |  Pneumonia  |  6
HP:0003095  |  Septic arthritis  |  5
HP:0012531  |  Pain  |  4
HP:0100280  |  Morbus Crohn  |  4
HP:0001287  |  Meningitis  |  4
HP:0002664  |  Neoplasia  |  4
HP:0001945  |  Fever  |  3
HP:0002665  |  Lymphoma  |  3
HP:0002756  |  Pathologic fracture  |  3
HP:0000819  |  Diabetes mellitus  |  3
HP:0002625  |  Blood clot in a deep vein  |  3
HP:0001909  |  Leukemia  |  3
HP:0002719  |  infections, recurrent  |  2
HP:0004936  |  Blood clot in vein  |  2
HP:0030731  |  Carcinoma  |  2
HP:0002860  |  Squamous cell carcinoma  |  2
HP:0010885  |  Aseptic necrosis  |  2
HP:0040165  |  Periostitis  |  2
HP:0000969  |  Dropsy  |  2
HP:0011001  |  Increased bone mineral density  |  2
HP:0002721  |  Immunodeficiency  |  2
HP:0011002  |  Osteopetrosis  |  2
HP:0100774  |  Hyperostosis  |  2
HP:0006721  |  Acute lymphocytic leukemia  |  2
HP:0003419  |  Low back pain  |  1
HP:0005203  |  Spontaneous esophageal rupture  |  1
HP:0006532  |  Pneumonia, recurrent episodes  |  1
HP:0012424  |  Chorioretinitis  |  1
HP:0100727  |  Histiocytosis  |  1
HP:0000246  |  Sinus inflammation  |  1
HP:0000112  |  Nephropathy  |  1
HP:0000689  |  Misalignment of upper and lower dental arches  |  1
HP:0012190  |  T cell lymphoma  |  1
HP:0030314  |  Periostosis  |  1
HP:0004953  |  Abdominal aortic aneurysm  |  1
HP:0002653  |  Bone pain  |  1
HP:0030049  |  Brain abscess  |  1
HP:0002341  |  Cervical cord compression  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0003418  |  Back pain  |  1
HP:0002383  |  Encephalitis  |  1
HP:0001733  |  Pancreatic inflammation  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0002754  |  Bone infection  |  1
HP:0012254  |  Ewing's sarcoma  |  1
HP:0000265  |  Mastoiditis  |  1
HP:0004418  |  Thrombophlebitis  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0003401  |  Paresthesia  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0100539  |  Periorbital swelling  |  1
HP:0030757  |  Dental abscess  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0100769  |  Synovitis  |  1
HP:0000999  |  Pyoderma  |  1
HP:0012191  |  B-cell lymphoma  |  1
HP:0200042  |  Skin ulcer  |  1
HP:0100242  |  Sarcoma  |  1
HP:0100584  |  Endocarditis  |  1
HP:0012399  |  Bedsore  |  1
HP:0002204  |  Pulmonary embolism  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0000846  |  Hypoadrenalism  |  1
HP:0100658  |  Bacterial infection of skin  |  1
HP:0001875  |  Neutropenia  |  1
HP:0100246  |  Osteoma  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0004818  |  Paroxysmal nocturnal hemoglobinuria  |  1
HP:0100749  |  Thoracic pain  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0040187  |  Neonatal sepsis  |  1
Disease ID 948
Disease osteomyelitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:40)
C2707258  |  infections
C2598155  |  pain
C2364133  |  infection
C2240374  |  eosinophilia
C2074875  |  sequestrum
C1998328  |  abscess of medulla oblongata
C1963077  |  bone pain
C1704275  |  pyomyositis
C1550639  |  fistula
C1546533  |  abscess
C1510420  |  cavities
C1456822  |  lameness
C0948162  |  bone marrow oedema
C0744945  |  hip prosthesis infection
C0600327  |  toxic shock syndrome
C0581883  |  deafness
C0426768  |  o sign
C0406683  |  bullosis diabeticorum
C0340708  |  deep vein thrombosis
C0275901  |  nasal tuberculosis
C0272412  |  splenic abscess
C0238790  |  bone destruction
C0221014  |  secondary amyloidosis
C0152964  |  streptococcal septicaemia
C0149871  |  deep venous thrombosis
C0085652  |  pyoderma gangrenosum
C0078048  |  varicella
C0040485  |  torticollis
C0038160  |  staphylococcal infection
C0036420  |  localized scleroderma
C0032541  |  polyneuritis
C0032308  |  staphylococcal pneumonia
C0027726  |  nephrotic syndrome
C0023223  |  leg ulcer
C0018923  |  angiosarcoma
C0017661  |  iga nephropathy
C0012624  |  spondylodiscitis
C0010356  |  cross infections
C0007361  |  cat-scratch disease
C0006105  |  brain abscess
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:16)
C0000833  |  abscess  |  34
C0009450  |  infection  |  30
C0021311  |  infections  |  17
C0030193  |  pain  |  4
C1704275  |  pyomyositis  |  3
C0016169  |  fistula  |  3
C0426768  |  o sign  |  3
C0149871  |  deep venous thrombosis  |  2
C0238790  |  bone destruction  |  2
C0333311  |  sequestrum  |  2
C0311395  |  lameness  |  2
C0006105  |  brain abscess  |  1
C0012624  |  spondylodiscitis  |  1
C0151825  |  bone pain  |  1
C0042487  |  deep vein thrombosis  |  1
C0085652  |  pyoderma gangrenosum  |  1
Manually Genotype(Total Text Mining Genotypes:0)
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Text Mining Genotype(Total Genotypes:0)
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All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs4986790164872387097TLR2umls:C0029443BeFreePolymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacterial infections, we therefore studied these polymorphisms in osteomyelitis patients.0.0008143262006TLR49117713024AG
rs4986790164872387099TLR4umls:C0029443BeFreeThe Toll-like receptor 4 (Asp299Gly) polymorphism is a risk factor for Gram-negative and haematogenous osteomyelitis.0.0002714422006TLR49117713024AG
rs4986791164872387097TLR2umls:C0029443BeFreePolymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacterial infections, we therefore studied these polymorphisms in osteomyelitis patients.0.0008143262006TLR49117713324CT
rs5743708164872387097TLR2umls:C0029443BeFreePolymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacterial infections, we therefore studied these polymorphisms in osteomyelitis patients.0.0008143262006TLR24153705165GA
GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Disease ID 948
Disease osteomyelitis
Case(Waiting for update.)