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 C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1825860
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Masp2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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Csf3
colony stimulating factor 3
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Btk
Bruton tyrosine kinase
treatment
IMP
RGD
PMID:22228807
RGD:11040701
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cfd
complement factor D
IDA
RGD
PMID:10605043
RGD:1624328
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:23470165
RGD:9068463
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Fcgr2a
Fc gamma receptor 2A
treatment
ISO
RGD
PMID:10762218
RGD:9588604
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Mefv
MEFV innate immunity regulator, pyrin
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 chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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C8a
complement C8 alpha chain
ISO
ClinVar Annotator: match by term: C8A-related condition | ClinVar Annotator: match by term: Type I complement component 8 deficiency
OMIM ClinVar
PMID:975502 PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754
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C8b
complement C8 beta chain
ISO
ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency
OMIM ClinVar
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 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
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