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
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 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,939
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1825860
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
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MASP2
MBL associated serine protease 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
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CSF3
colony stimulating factor 3
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
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BTK
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:22228807
RGD:11040701
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
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CFD
complement factor D
ISO
RGD
PMID:10605043
RGD:1624328
NCBI chr 2:77,509,792...77,511,988
Ensembl chr 2:77,509,795...77,511,974
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:23470165
RGD:9068463
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
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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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
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CCL2
chemokine (C-C motif) ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:25839768 PMID:26234573
RGD:11522500 RGD:11528567
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
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CD86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
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HMOX1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
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IL1RN
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
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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 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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KNG1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376
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MEFV
MEFV innate immuity regulator, pyrin
susceptibility
ISO
DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human) DNA:mutations:exons:
RGD
PMID:20602240 PMID:22451026 PMID:25232290
RGD:11531116 RGD:7349346 RGD:7349347
NCBI chr 3:38,934,573...38,948,609
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PLAT
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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PLAU
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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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 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:350256 PMID:9380243
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
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C8A
complement C8 alpha chain
ISO
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM | ClinVar Annotator: match by term: Type I complement component 8 deficiency
OMIM ClinVar
PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:155,464,855...155,530,473
Ensembl chr 6:155,464,852...155,530,472
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C8B
complement C8 beta chain
ISO
ClinVar Annotator: match by term: Type II complement component 8 deficiency
OMIM ClinVar
PMID:7594510 PMID:8098723 PMID:8365729 PMID:14767900 PMID:19434484 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27183977 PMID:28368462 PMID:28492532 PMID:30609409 PMID:31440263 PMID:31980526 More...
NCBI chr 6:155,411,982...155,453,034
Ensembl chr 6:155,387,142...155,458,586
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