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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:eosinophilic esophagitis
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Accession:DOID:13922 term browser browse the term
Definition:An esophagitis characterized by inflammation involving eosinophils located_in esophagus. (DO)
Synonyms:exact_synonym: EE;   EOE1;   EOE2;   Eosinophilic Chronic Esophagitides;   Eosinophilic Chronic Esophagitis;   Eosinophilic Esophagitides;   eosinophilic esophagitis 1;   eosinophilic esophagitis 2;   esophageal eosinophilia
 narrow_synonym: childhood eosinophilic esophagitis;   pediatric eosinophilic esophagitis
 primary_id: MESH:D057765
 alt_id: MIM:610247;   MIM:613412
 xref: EFO:0004232;   EFO:0004594;   ICD10CM:K20.0;   ICD9CM:530.13;   NCI:C27105;   ORDO:73247
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IEP RGD PMID:22331014 RGD:6771318 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANKRD27 ankyrin repeat domain 27 IAGP DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr19:32,597,006...32,675,180
Ensembl chr19:32,597,006...32,676,597 		JBrowse link
G CAPN14 calpain 14 IAGP
EXP
IEP		 DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus		 CTD
RGD		 PMID:25017104 PMID:25407941 PMID:25017104 RGD:11100048, RGD:11100049 NCBI chr 2:31,173,056...31,233,957
Ensembl chr 2:31,173,056...31,233,858 		JBrowse link
G CCL26 C-C motif chemokine ligand 26 treatment IDA
IEP		 protein:increased expression:esophagus (human) RGD PMID:18844613 PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CD40LG CD40 ligand IEP protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment IAGP DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547 		JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G TGFB1 transforming growth factor beta 1 IDA RGD PMID:24486052 RGD:11073602 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TSLP thymic stromal lymphopoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      gastrointestinal system disease 21089
        gastroenteritis 4149
          esophagitis 155
            eosinophilic esophagitis 134
Path 2
Term Annotations click to browse term
  disease 145369
    Pathological Conditions, Signs and Symptoms 69045
      Pathologic Processes 34171
        Inflammation 15345
          gastroenteritis 4149
            esophagitis 155
              eosinophilic esophagitis 134
paths to the root