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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:hypereosinophilic syndrome
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Accession:DOID:999 term browser 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;   Idiopathic Hypereosinophilic Syndrome;   Idiopathic Hypereosinophilic Syndromes;   Loeffler Endocarditis;   Loeffler's Endocarditis;   Loefflers endocarditis;   eosinophilic leukocytosis
 narrow_synonym: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
 primary_id: MESH:D017681
 alt_id: OMIM:607685
 xref: EFO:1001467;   GARD:2804;   ICD10CM:D72.1;   ICD9CM:288.3;   ORDO:168956


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hypereosinophilic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G 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 		JBrowse link
G 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 More... RGD:9693733 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8896393 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
Carrington Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:alveolar system (human) RGD PMID:11488333 RGD:11528564 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
eosinophilia-myalgia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM
ClinVar		 PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Pdgfra-Associated Chronic Eosinophilic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
pulmonary eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam8 ADAM metallopeptidase domain 8 ISO protein:increased expression:serum RGD PMID:19625177 RGD:5128874 NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801 		JBrowse link
G C3 complement C3 ISO RGD PMID:23549917 RGD:7401272 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11956056 RGD:4145602 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G 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 		JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:12750406 RGD:4145437 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:24218148 RGD:11041569 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:lung RGD PMID:20796249 RGD:4140455 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO associated with Respiratory Syncytial Virus Infections RGD PMID:12574374 RGD:8549597 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:Bronchoalveolar lavage: RGD PMID:24706315 RGD:11528542 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G 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 chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:increased expression:lung (mouse) RGD PMID:7743671 RGD:8547590 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29067999 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:18829681 RGD:4891506 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:16714207 RGD:4892061 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G 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 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:22802632 RGD:11059529 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      hypereosinophilic syndrome 28
        Pdgfra-Associated Chronic Eosinophilic Leukemia 2
        disseminated eosinophilic collagen disease 0
        eosinophilia-myalgia syndrome 2
        myeloproliferative disorder with eosinophilia 1
        pulmonary eosinophilia + 21
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Hemic and Lymphatic Diseases 3934
        hematopoietic system disease 3429
          leukocyte disease 1283
            Eosinophilia 58
              hypereosinophilic syndrome 28
                Pdgfra-Associated Chronic Eosinophilic Leukemia 2
                disseminated eosinophilic collagen disease 0
                eosinophilia-myalgia syndrome 2
                myeloproliferative disorder with eosinophilia 1
                pulmonary eosinophilia + 21
paths to the root