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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Legionnaires' disease
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Accession:DOID:10457 term browser browse the term
Definition:A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. (DO)
Synonyms:exact_synonym: Legionella pneumophila Infection;   Legionella pneumophila Infections;   Legionnaire Disease;   Legionnaire's Disease;   infection by Legionella pneumophilia;   legionella;   legionella pneumonia
 related_synonym: Legionnaire disease, susceptibility to
 primary_id: MESH:D007877
 alt_id: MIM:608556
 xref: EFO:0007343;   ICD10CM:A48.1;   ICD9CM:482.84;   MONDO:0005824;   NCI:C128339
For additional species annotation, visit the Alliance of Genome Resources.


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Legionnaires' disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:9255891 RGD:5128857 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IMP RGD PMID:16113250 RGD:4891897 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 IEP mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 IMP RGD PMID:11254553 RGD:5135252 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:11349020 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il18 interleukin 18 IDA RGD PMID:11083766 RGD:4889865 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO RGD PMID:19073229 RGD:12910934 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 IMP RGD PMID:20685341 RGD:5131443 NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 IMP RGD PMID:20685341 RGD:5131443 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Tlr5 toll-like receptor 5 susceptibility ISO
IMP 		DNA:nonsense mutation:cds:p.R392X (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Legionnaire disease, susceptibility to 		CTD
ClinVar
OMIM
RGD		 PMID:14623910 PMID:16027372 PMID:23447684 PMID:14623910 PMID:17982089 RGD:5129477, RGD:5129510 NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010 		JBrowse link
G Tlr9 toll-like receptor 9 IMP RGD PMID:18426877 RGD:5130707 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a IMP RGD PMID:18838275 RGD:5131445 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b IMP RGD PMID:18838275 RGD:5131445 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      respiratory system disease 5132
        Respiratory Tract Infections 499
          legionellosis 15
            Legionnaires' disease 15
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      respiratory system disease 5132
        lower respiratory tract disease 2358
          lung disease 2319
            pneumonia 232
              bacterial pneumonia 150
                Legionnaires' disease 15
paths to the root