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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 IEP protein:increased expression:serum RGD PMID:9255891 RGD:5128857 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16113250 RGD:4891897 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:11254553 RGD:5135252 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:11349020 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11083766 RGD:4889865 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IEP RGD PMID:19073229 RGD:12910934 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO RGD PMID:20685341 RGD:5131443 NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20685341 RGD:5131443 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G TLR5 toll like receptor 5 susceptibility IAGP
ISO
EXP 		DNA:nonsense mutation:cds:p.R392X (human)
ClinVar Annotator: match by term: Legionnaire disease, susceptibility to
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:14623910 PMID:16027372 PMID:23447684 PMID:14623910 PMID:17982089 RGD:5129477, RGD:5129510 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292 		JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:18426877 RGD:5130707 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:18838275 RGD:5131445 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:18838275 RGD:5131445 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      respiratory system disease 22655
        Respiratory Tract Infections 1779
          legionellosis 16
            Legionnaires' disease 16
Path 2
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      respiratory system disease 22655
        lower respiratory tract disease 8869
          lung disease 8803
            pneumonia 370
              bacterial pneumonia 150
                Legionnaires' disease 16
paths to the root