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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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16113250 RGD:4891897 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:11254553 RGD:5135252 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:11349020 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:11083766 RGD:4889865 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO RGD PMID:19073229 RGD:12910934 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO RGD PMID:20685341 RGD:5131443 NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:20685341 RGD:5131443 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Tlr5 toll-like receptor 5 susceptibility ISO 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 chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:18426877 RGD:5130707 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:18838275 RGD:5131445 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:18838275 RGD:5131445 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      respiratory system disease 5240
        Respiratory Tract Infections 490
          legionellosis 15
            Legionnaires' disease 15
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      respiratory system disease 5240
        lower respiratory tract disease 2357
          lung disease 2318
            pneumonia 227
              bacterial pneumonia 148
                Legionnaires' disease 15
paths to the root