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: hypersensitivity reaction type III disease
Accession: DOID:1557
browse the term
Definition: A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. (DO)
Synonyms: exact_synonym: Immune Complex Disease; Immune Complex Diseases; Type III Hypersensitivities; Type III Hypersensitivity
primary_id: MESH:D007105
xref: EFO:1001222
For additional species annotation, visit the
Alliance of Genome Resources .
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C1qa
complement component 1, q subcomponent, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1825860
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
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Csf3
colony stimulating factor 3 (granulocyte)
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Btk
Bruton agammaglobulinemia tyrosine kinase
treatment
ISO
RGD
PMID:22228807
RGD:11040701
NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319
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Cfd
complement factor D
ISO
RGD
PMID:10605043
RGD:1624328
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cx3cr1
C-X3-C motif chemokine receptor 1
IMP
RGD
PMID:23470165
RGD:9068463
NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Fcgr3
Fc receptor, IgG, low affinity III
treatment
ISO
RGD
PMID:10762218
RGD:9588604
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 PMID:20702504
RGD:11039045 , RGD:11039055
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:26234573 PMID:25839768
RGD:11522500 , RGD:11528567
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd86
CD86 antigen
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Il27
interleukin 27
ISO
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"
RGD
PMID:33280050
RGD:126790550
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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Mefv
Mediterranean fever
susceptibility
ISO
DNA:mutations:exons: DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human)
RGD
PMID:22451026 PMID:25232290 PMID:20602240
RGD:7349346 , RGD:11531116 , RGD:7349347
NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
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Plat
plasminogen activator, tissue
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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C8a
complement component 8, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type I complement component 8 deficiency
OMIM CTD ClinVar
PMID:975502 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 4:104,672,876...104,733,684
Ensembl chr 4:104,672,876...104,733,595
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C8b
complement component 8, beta polypeptide
ISO
ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7594510 PMID:8098723 PMID:8365729 PMID:9536098 PMID:14767900 PMID:17576681 PMID:19434484 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27183977 PMID:28368462 PMID:28492532 PMID:30609409 PMID:31440263 PMID:31980526 More...
NCBI chr 4:104,623,514...104,661,745
Ensembl chr 4:104,623,514...104,661,745
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