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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:Eosinophilia
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Accession:DOID:9001371 term browser browse the term
Definition:Abnormal increase of EOSINOPHILS in the blood, tissues or organs.
Synonyms:exact_synonym: Eosinophilias;   Tropical Eosinophilia;   Tropical Eosinophilias
 primary_id: MESH:D004802
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) RGD PMID:24717943 RGD:8657092 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:10385260 RGD:4891039 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 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 severity ISO associated with Lymphoma, T-Cell RGD PMID:18395252 RGD:11354898 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO associated with Sinusitis
associated with Pleural Effusion
RGD PMID:19296494, PMID:15947325 RGD:4891487, RGD:5130928 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Asthma RGD PMID:17983872 RGD:4145642 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO RGD PMID:24078688 RGD:40903041 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829, PMID:20660993, PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP RGD PMID:19406829, PMID:20660993, PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:23114151 RGD:11075088 NCBI chr14:36,150,381...36,208,395
Ensembl chr14:36,150,399...36,208,373
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Il5 interleukin 5 treatment
severity
IEP
ISO
CTD Direct Evidence: marker/mechanism
associated with Toxocariasis
associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)
associated with Lymphoma, T-Cell
CTD PMID:1988543 PMID:11006010, PMID:11884473, PMID:1699772, PMID:1988543, PMID:14581138, PMID:18395252 RGD:625643, RGD:11354933, RGD:11354921, RGD:11354913, RGD:11354898 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:1937926 RGD:11059896 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
DNA:gene fusion
RGD PMID:15284118, PMID:23114151 RGD:1580848, RGD:11075088 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706 PMID:25356970 PMID:28111307 PMID:32750333 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO RGD PMID:22331014 RGD:6771318 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:91,857,048...91,958,763
Ensembl chr 1:91,857,057...91,958,763
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613, PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
eosinophilic gastroenteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO mRNA:increased expression:gastric antrum (human) RGD PMID:25234644 RGD:11081160 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:intestine, eosinophil RGD PMID:8608886 RGD:11354940 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
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 PMID:31036733 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:9536098 PMID:12660384 PMID:16778211 PMID:17576681 PMID:20071345 PMID:20169295 PMID:22703879 PMID:22718859 PMID:24033266 PMID:24728327 PMID:25336117 PMID:25741868 PMID:26928227 PMID:28347583 PMID:28492532 PMID:30093976 PMID:30359545 PMID:30389923 PMID:31036733, 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
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
ClinVar
OMIM
PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
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: Myeloproliferative disorder, chronic, with eosinophilia OMIM
ClinVar
PMID:25454926 PMID:25741868 PMID:26455322 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO OMIM NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 ISO OMIM PMID:9630231 RGD:1599403 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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 16918
    disease of anatomical entity 16286
      hematopoietic system disease 1757
        leukocyte disease 503
          Eosinophilia 56
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 1
            Eosinophilic Fasciitis 0
            Eosinophilic Granuloma 0
            Eosinophilic Pustular Folliculitis 1
            Eosinophilic Synovitis 0
            Familial Eosinophilia 0
            Kimura disease 0
            Lethal Congenital Neutropenia with Eosinophilia 0
            Omenn syndrome 3
            Pseudopyogenic Granuloma 0
            Wells Syndrome 0
            eosinophilic esophagitis 10
            eosinophilic gastritis 0
            eosinophilic gastroenteritis 2
            hypereosinophilic syndrome + 27
            immunodeficiency 71 1
            myeloproliferative disorder with eosinophilia 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Hemic and Lymphatic Diseases 2172
        hematopoietic system disease 1757
          leukocyte disease 503
            Eosinophilia 56
              Autoinflammation, Immunde Dysregulation, and Eosinophilia 1
              Eosinophilic Fasciitis 0
              Eosinophilic Granuloma 0
              Eosinophilic Pustular Folliculitis 1
              Eosinophilic Synovitis 0
              Familial Eosinophilia 0
              Kimura disease 0
              Lethal Congenital Neutropenia with Eosinophilia 0
              Omenn syndrome 3
              Pseudopyogenic Granuloma 0
              Wells Syndrome 0
              eosinophilic esophagitis 10
              eosinophilic gastritis 0
              eosinophilic gastroenteritis 2
              hypereosinophilic syndrome + 27
              immunodeficiency 71 1
              myeloproliferative disorder with eosinophilia 1
paths to the root