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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: GARD:2804;   ICD10CM:D72.1;   ICD9CM:288.3;   ORDO:168956
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778211, PMID:28347583 NCBI chr14:36,150,381...36,208,395
Ensembl chr14:36,150,399...36,208,373
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607685
ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib
ClinVar
CTD
OMIM
PMID:12660384, PMID:16778211, PMID:20071345, PMID:20169295, PMID:22703879, PMID:22718859, PMID:24033266, PMID:24728327, PMID:25336117, PMID:25741868, PMID:26928227, PMID:28347583, PMID:28492532, PMID:30359545, PMID:30389923, PMID:12660384 RGD:9693733 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8896393 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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 chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 OMIM NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 chr14:36,150,381...36,208,395
Ensembl chr14:36,150,399...36,208,373
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
JBrowse link
G C3 complement C3 ISO RGD PMID:23549917 RGD:7401272 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Asthma RGD PMID:12707363 RGD:4891412 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:12750406 RGD:4145437 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11956056 RGD:4145602 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:20732990 RGD:4145617 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:12750406 RGD:4145437 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:24218148 RGD:11041569 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:lung RGD PMID:20796249 RGD:4140455 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO associated with Respiratory Syncytial Virus Infections RGD PMID:12574374 RGD:8549597 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:Bronchoalveolar lavage: RGD PMID:24706315 RGD:11528542 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il5 interleukin 5 treatment ISO associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion
associated with respiratory syncytial virus infection
RGD PMID:9712797, PMID:17597386, PMID:10471622, PMID:18519743, PMID:12765419 RGD:4890961, RGD:11354949, RGD:11354935, RGD:4890941, RGD:4890956 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29067999 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:18829681 RGD:4891506 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:16714207 RGD:4892061 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:decreased expression:serum RGD PMID:15467329 RGD:5144148 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:22802632 RGD:11059529 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      hypereosinophilic syndrome 27
        Pdgfra-Associated Chronic Eosinophilic Leukemia 2
        disseminated eosinophilic collagen disease 0
        eosinophilia-myalgia syndrome 2
        myeloproliferative disorder with eosinophilia 1
        pulmonary eosinophilia + 20
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          leukocyte disease 499
            Eosinophilia 55
              hypereosinophilic syndrome 27
                Pdgfra-Associated Chronic Eosinophilic Leukemia 2
                disseminated eosinophilic collagen disease 0
                eosinophilia-myalgia syndrome 2
                myeloproliferative disorder with eosinophilia 1
                pulmonary eosinophilia + 20
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.