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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:Neisseriaceae Infections
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Accession:DOID:9008538 term browser browse the term
Definition:Infections with bacteria of the family NEISSERIACEAE.
Synonyms:exact_synonym: Neisseriaceae Infection
 primary_id: MESH:D016870;   RDO:0005693
 xref: EFO:1001377



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Neisseriaceae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8A complement C8 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9759902 NCBI chr 5:52,584,707...52,649,612
Ensembl chr 5:52,584,934...52,653,794
JBrowse link
G C8B complement C8 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8098723 NCBI chr 5:52,535,359...52,574,872
Ensembl chr 5:52,532,481...52,574,182
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:19202131 RGD:5132273 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CFD complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11457876 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
JBrowse link
Meningococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:11956052 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADD1 adducin 1 ISO DNA:missense mutation:cds:p.G460W (human) RGD PMID:18679149 RGD:5147999 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
JBrowse link
G C3 complement C3 severity ISO RGD PMID:3491693 RGD:11041157 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CFB complement factor B severity ISO RGD PMID:3491693 RGD:11041157 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CFD complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16527897 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
JBrowse link
G CFH complement factor H treatment
exacerbates
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:19047406 PMID:20694013 PMID:25143339 RGD:108019051 RGD:11041174 NCBI chr38:2,878,677...2,956,226 JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:14717966 RGD:1598478 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G IL4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-524C>T(human) RGD PMID:20016407 RGD:14696700 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
meningococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9570574 NCBI chr 4:69,660,861...69,719,793
Ensembl chr 4:69,660,907...69,719,562
JBrowse link
G CFP complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8530058 PMID:10909851 NCBI chr  X:41,245,868...41,252,194
Ensembl chr  X:41,245,905...41,251,623
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO RGD PMID:12869763 RGD:6483466 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:sub-cortical, meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:10430840 RGD:8547971 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:10430840 RGD:8547971 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO DNA:SNP,haplotype: :SNP8(human) RGD PMID:23691182 RGD:7800668 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:23691182 RGD:7800668 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:SNP,haplotype: :896A>G(rs4986790)(human) RGD PMID:23691182 RGD:7800668 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease by infectious agent 2124
      Bacterial Infections and Mycoses 1008
        bacterial infectious disease 798
          Gram-Negative Bacterial Infections 188
            Neisseriaceae Infections 21
              Meningococcal Infections + 18
              acute gonococcal endometritis 0
              acute gonococcal salpingitis 0
              chronic gonococcal salpingitis 0
              gonococcal bursitis 0
              gonococcal endophthalmia 0
              gonococcal iridocyclitis 0
              gonococcal synovitis 0
              gonorrhea + 0
paths to the root