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: hypereosinophilic syndrome
Accession: DOID:999
browse the term
Definition: A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. (DO)
Synonyms: exact_synonym: Eosinophilic Leukemia; Eosinophilic Leukemias; HES; Hypereosinophilic Syndromes; Loeffler Endocarditis; Loeffler's Endocarditis; Loefflers endocarditis; eosinophilic leukocytosis
narrow_synonym: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB; idiopathic hypereosinophilic syndrome
broad_synonym: PDGFRA-related condition
xref: EFO:1001467 ; GARD:2804 ; ICD10CM:D72.1 ; ICD9CM:288.3 ; MESH:D017681 ; MIM:607685 ; MONDO:0015691 ; ORDO:168956
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F5
coagulation factor V
ISO
RGD
PMID:15026880
RGD:1580361
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:76,513,255...76,582,317
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778211 PMID:28347583 PMID:31036733
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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Pdgfra
platelet derived growth factor receptor alpha
ISO
DNA:translocation: (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome
OMIM CTD ClinVar RGD
PMID:9536098 PMID:12660384 PMID:16778211 PMID:17576681 PMID:20071345 PMID:20169295 PMID:22473090 PMID:22703879 PMID:22718859 PMID:23752188 PMID:24033266 PMID:24728327 PMID:25336117 PMID:25741868 PMID:26928227 PMID:27153395 PMID:28347583 PMID:28492532 PMID:28873162 PMID:30093976 PMID:30359545 PMID:30389923 PMID:31036733 PMID:33332384 PMID:35101336 PMID:12660384 More...
RGD:9693733
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8896393
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:77,251,373...77,277,421
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:alveolar system (human)
RGD
PMID:11488333
RGD:11528564
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15956791
RGD:5135443
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15956791
RGD:5135443
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19790128
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19790128
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia
ClinVar
PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 PMID:30573803 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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Pdgfra
platelet derived growth factor receptor alpha
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
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Adam8
ADAM metallopeptidase domain 8
ISO
protein:increased expression:serum
RGD
PMID:19625177
RGD:5128874
NCBI chr 1:204,206,206...204,218,988
Ensembl chr 1:194,770,060...194,788,801
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C3
complement C3
ISO
RGD
PMID:23549917
RGD:7401272
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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Ccl1
C-C motif chemokine ligand 1
ISO
associated with Asthma
RGD
PMID:12707363
RGD:4891412
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:12750406
RGD:4145437
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17
C-C motif chemokine ligand 17
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:11956056
RGD:4145602
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:20732990
RGD:4145617
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd44
CD44 molecule
ISO
RGD
PMID:12750406
RGD:4145437
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Epas1
endothelial PAS domain protein 1
ISO
RGD
PMID:24218148
RGD:11041569
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
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Il10
interleukin 10
ISO
protein:increased expression:lung
RGD
PMID:20796249
RGD:4140455
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
associated with Respiratory Syncytial Virus Infections
RGD
PMID:12574374
RGD:8549597
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:Bronchoalveolar lavage:
RGD
PMID:24706315
RGD:11528542
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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Il5
interleukin 5
treatment
ISO
associated with respiratory syncytial virus infection protein:increased expression:respiratory system fluid/secretion associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9712797 PMID:18519743 PMID:12765419 PMID:10471622 PMID:17597386
RGD:4890961 , RGD:4890941 , RGD:4890956 , RGD:11354935 , RGD:11354949
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213
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Itgb2
integrin subunit beta 2
ISO
protein:increased expression:lung (mouse)
RGD
PMID:7743671
RGD:8547590
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29067999
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:18829681
RGD:4891506
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
RGD
PMID:16714207
RGD:4892061
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Scgb1a1
secretoglobin family 1A member 1
ISO
protein:decreased expression:serum
RGD
PMID:15467329
RGD:5144148
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:22802632
RGD:11059529
NCBI chr 7:9,034,077...9,041,489
Ensembl chr 7:8,383,378...8,388,176
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